SNP Links for Protein (Select 544583596) - SNP

Links from Protein

Items: 1 to 20 of 1321

<< First< Prev

Page of 67

Next >Last >>

Select item 14898342531.

rs1489834253 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:142403946 (GRCh38)
3:142122788 (GRCh37)
Canonical SPDI:: NC_000003.12:142403945:T:C,NC_000003.12:142403945:T:G
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.142403946T>C, NC_000003.12:g.142403946T>G, NC_000003.11:g.142122788T>C, NC_000003.11:g.142122788T>G, NM_019001.5:c.1927A>G, NM_019001.5:c.1927A>C, NM_019001.4:c.1927A>G, NM_019001.4:c.1927A>C, NM_019001.3:c.1927A>G, NM_019001.3:c.1927A>C, XM_011512919.3:c.1927A>G, XM_011512919.3:c.1927A>C, XM_011512919.2:c.1927A>G, XM_011512919.2:c.1927A>C, XM_011512919.1:c.1927A>G, XM_011512919.1:c.1927A>C, XM_011512920.3:c.1927A>G, XM_011512920.3:c.1927A>C, XM_011512920.2:c.1927A>G, XM_011512920.2:c.1927A>C, XM_011512920.1:c.1927A>G, XM_011512920.1:c.1927A>C, XM_006713673.3:c.1927A>G, XM_006713673.3:c.1927A>C, XM_006713673.2:c.1927A>G, XM_006713673.2:c.1927A>C, XM_006713673.1:c.1927A>G, XM_006713673.1:c.1927A>C, NM_001282857.2:c.1927A>G, NM_001282857.2:c.1927A>C, NM_001282857.1:c.1927A>G, NM_001282857.1:c.1927A>C, XM_017006640.2:c.1927A>G, XM_017006640.2:c.1927A>C, XM_017006640.1:c.1927A>G, XM_017006640.1:c.1927A>C, XM_017006641.2:c.1927A>G, XM_017006641.2:c.1927A>C, XM_017006641.1:c.1927A>G, XM_017006641.1:c.1927A>C, XM_017006642.2:c.1927A>G, XM_017006642.2:c.1927A>C, XM_017006642.1:c.1927A>G, XM_017006642.1:c.1927A>C, NM_001042604.1:c.1927A>G, NM_001042604.1:c.1927A>C, XM_047448356.1:c.1927A>G, XM_047448356.1:c.1927A>C, XM_047448357.1:c.1927A>G, XM_047448357.1:c.1927A>C, XM_047448358.1:c.1297A>G, XM_047448358.1:c.1297A>C, XM_047448359.1:c.1927A>G, XM_047448359.1:c.1927A>C, NP_061874.3:p.Lys643Glu, NP_061874.3:p.Lys643Gln, XP_011511221.1:p.Lys643Glu, XP_011511221.1:p.Lys643Gln, XP_011511222.1:p.Lys643Glu, XP_011511222.1:p.Lys643Gln, XP_006713736.1:p.Lys643Glu, XP_006713736.1:p.Lys643Gln, NP_001269786.1:p.Lys643Glu, NP_001269786.1:p.Lys643Gln, XP_016862129.1:p.Lys643Glu, XP_016862129.1:p.Lys643Gln, XP_016862130.1:p.Lys643Glu, XP_016862130.1:p.Lys643Gln, XP_016862131.1:p.Lys643Glu, XP_016862131.1:p.Lys643Gln, XP_047304312.1:p.Lys643Glu, XP_047304312.1:p.Lys643Gln, XP_047304313.1:p.Lys643Glu, XP_047304313.1:p.Lys643Gln, XP_047304314.1:p.Lys433Glu, XP_047304314.1:p.Lys433Gln, XP_047304315.1:p.Lys643Glu, XP_047304315.1:p.Lys643Gln

Select item 14891282592.

rs1489128259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:142404929 (GRCh38)
3:142123771 (GRCh37)
Canonical SPDI:: NC_000003.12:142404928:C:G
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142404929C>G, NC_000003.11:g.142123771C>G, NM_019001.5:c.1861G>C, NM_019001.4:c.1861G>C, NM_019001.3:c.1861G>C, XM_011512919.3:c.1861G>C, XM_011512919.2:c.1861G>C, XM_011512919.1:c.1861G>C, XM_011512920.3:c.1861G>C, XM_011512920.2:c.1861G>C, XM_011512920.1:c.1861G>C, XM_006713673.3:c.1861G>C, XM_006713673.2:c.1861G>C, XM_006713673.1:c.1861G>C, NM_001282857.2:c.1861G>C, NM_001282857.1:c.1861G>C, XM_017006640.2:c.1861G>C, XM_017006640.1:c.1861G>C, XM_017006641.2:c.1861G>C, XM_017006641.1:c.1861G>C, XM_017006642.2:c.1861G>C, XM_017006642.1:c.1861G>C, NM_001042604.1:c.1861G>C, XM_047448356.1:c.1861G>C, XM_047448357.1:c.1861G>C, XM_047448358.1:c.1231G>C, XM_047448359.1:c.1861G>C, NP_061874.3:p.Ala621Pro, XP_011511221.1:p.Ala621Pro, XP_011511222.1:p.Ala621Pro, XP_006713736.1:p.Ala621Pro, NP_001269786.1:p.Ala621Pro, XP_016862129.1:p.Ala621Pro, XP_016862130.1:p.Ala621Pro, XP_016862131.1:p.Ala621Pro, XP_047304312.1:p.Ala621Pro, XP_047304313.1:p.Ala621Pro, XP_047304314.1:p.Ala411Pro, XP_047304315.1:p.Ala621Pro

Select item 14888617903.

rs1488861790 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATC>- [Show Flanks]
Chromosome:: 3:142418584 (GRCh38)
3:142137426 (GRCh37)
Canonical SPDI:: NC_000003.12:142418578:TCATCATC:TCATC
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TCATC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
-=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.142418581ATC[1], NC_000003.11:g.142137423ATC[1], NM_019001.5:c.1266TGA[1], NM_019001.4:c.1266TGA[1], NM_019001.3:c.1266TGA[1], XM_011512919.3:c.1266TGA[1], XM_011512919.2:c.1266TGA[1], XM_011512919.1:c.1266TGA[1], XM_011512920.3:c.1266TGA[1], XM_011512920.2:c.1266TGA[1], XM_011512920.1:c.1266TGA[1], XM_006713673.3:c.1266TGA[1], XM_006713673.2:c.1266TGA[1], XM_006713673.1:c.1266TGA[1], NM_001282857.2:c.1266TGA[1], NM_001282857.1:c.1266TGA[1], XM_017006640.2:c.1266TGA[1], XM_017006640.1:c.1266TGA[1], XM_017006641.2:c.1266TGA[1], XM_017006641.1:c.1266TGA[1], XM_017006642.2:c.1266TGA[1], XM_017006642.1:c.1266TGA[1], NM_001282859.2:c.1266TGA[1], NM_001282859.1:c.1266TGA[1], NM_001042604.1:c.1266TGA[1], XM_047448356.1:c.1266TGA[1], XM_047448357.1:c.1266TGA[1], XM_047448358.1:c.636TGA[1], XM_047448359.1:c.1266TGA[1], NP_061874.3:p.Asp424del, XP_011511221.1:p.Asp424del, XP_011511222.1:p.Asp424del, XP_006713736.1:p.Asp424del, NP_001269786.1:p.Asp424del, XP_016862129.1:p.Asp424del, XP_016862130.1:p.Asp424del, XP_016862131.1:p.Asp424del, NP_001269788.1:p.Asp424del, XP_047304312.1:p.Asp424del, XP_047304313.1:p.Asp424del, XP_047304314.1:p.Asp214del, XP_047304315.1:p.Asp424del

Select item 14879966124.

rs1487996612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:142400456 (GRCh38)
3:142119298 (GRCh37)
Canonical SPDI:: NC_000003.12:142400455:T:C
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142400456T>C, NC_000003.11:g.142119298T>C, NM_019001.5:c.2195A>G, NM_019001.4:c.2195A>G, NM_019001.3:c.2195A>G, XM_011512919.3:c.2195A>G, XM_011512919.2:c.2195A>G, XM_011512919.1:c.2195A>G, XM_011512920.3:c.2195A>G, XM_011512920.2:c.2195A>G, XM_011512920.1:c.2195A>G, XM_006713673.3:c.2195A>G, XM_006713673.2:c.2195A>G, XM_006713673.1:c.2195A>G, NM_001282857.2:c.2195A>G, NM_001282857.1:c.2195A>G, XM_017006640.2:c.2195A>G, XM_017006640.1:c.2195A>G, XM_017006641.2:c.2195A>G, XM_017006641.1:c.2195A>G, XM_017006642.2:c.2195A>G, XM_017006642.1:c.2195A>G, NM_001042604.1:c.2195A>G, XM_047448356.1:c.2195A>G, XM_047448357.1:c.2195A>G, XM_047448358.1:c.1565A>G, XM_047448359.1:c.2195A>G, NP_061874.3:p.Asp732Gly, XP_011511221.1:p.Asp732Gly, XP_011511222.1:p.Asp732Gly, XP_006713736.1:p.Asp732Gly, NP_001269786.1:p.Asp732Gly, XP_016862129.1:p.Asp732Gly, XP_016862130.1:p.Asp732Gly, XP_016862131.1:p.Asp732Gly, XP_047304312.1:p.Asp732Gly, XP_047304313.1:p.Asp732Gly, XP_047304314.1:p.Asp522Gly, XP_047304315.1:p.Asp732Gly

Select item 14877208085.

rs1487720808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:142371327 (GRCh38)
3:142090169 (GRCh37)
Canonical SPDI:: NC_000003.12:142371326:C:G
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142371327C>G, NC_000003.11:g.142090169C>G, NM_019001.5:c.2980G>C, NM_019001.4:c.2980G>C, NM_019001.3:c.2980G>C, XM_011512919.3:c.2980G>C, XM_011512919.2:c.2980G>C, XM_011512919.1:c.2980G>C, XM_011512920.3:c.2980G>C, XM_011512920.2:c.2980G>C, XM_011512920.1:c.2980G>C, NM_001282857.2:c.2980G>C, NM_001282857.1:c.2980G>C, XM_017006640.2:c.2980G>C, XM_017006640.1:c.2980G>C, XM_017006641.2:c.2980G>C, XM_017006641.1:c.2980G>C, XM_017006642.2:c.2980G>C, XM_017006642.1:c.2980G>C, NM_001042604.1:c.2980G>C, XM_047448356.1:c.2980G>C, XM_047448357.1:c.2980G>C, XM_047448358.1:c.2350G>C, XM_047448359.1:c.2980G>C, NP_061874.3:p.Ala994Pro, XP_011511221.1:p.Ala994Pro, XP_011511222.1:p.Ala994Pro, NP_001269786.1:p.Ala994Pro, XP_016862129.1:p.Ala994Pro, XP_016862130.1:p.Ala994Pro, XP_016862131.1:p.Ala994Pro, XP_047304312.1:p.Ala994Pro, XP_047304313.1:p.Ala994Pro, XP_047304314.1:p.Ala784Pro, XP_047304315.1:p.Ala994Pro

Select item 14866374686.

rs1486637468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:142384620 (GRCh38)
3:142103462 (GRCh37)
Canonical SPDI:: NC_000003.12:142384619:G:A,NC_000003.12:142384619:G:C
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.142384620G>A, NC_000003.12:g.142384620G>C, NC_000003.11:g.142103462G>A, NC_000003.11:g.142103462G>C, NM_019001.5:c.2405C>T, NM_019001.5:c.2405C>G, NM_019001.4:c.2405C>T, NM_019001.4:c.2405C>G, NM_019001.3:c.2405C>T, NM_019001.3:c.2405C>G, XM_011512919.3:c.2405C>T, XM_011512919.3:c.2405C>G, XM_011512919.2:c.2405C>T, XM_011512919.2:c.2405C>G, XM_011512919.1:c.2405C>T, XM_011512919.1:c.2405C>G, XM_011512920.3:c.2405C>T, XM_011512920.3:c.2405C>G, XM_011512920.2:c.2405C>T, XM_011512920.2:c.2405C>G, XM_011512920.1:c.2405C>T, XM_011512920.1:c.2405C>G, XM_006713673.3:c.2405C>T, XM_006713673.3:c.2405C>G, XM_006713673.2:c.2405C>T, XM_006713673.2:c.2405C>G, XM_006713673.1:c.2405C>T, XM_006713673.1:c.2405C>G, NM_001282857.2:c.2405C>T, NM_001282857.2:c.2405C>G, NM_001282857.1:c.2405C>T, NM_001282857.1:c.2405C>G, XM_017006640.2:c.2405C>T, XM_017006640.2:c.2405C>G, XM_017006640.1:c.2405C>T, XM_017006640.1:c.2405C>G, XM_017006641.2:c.2405C>T, XM_017006641.2:c.2405C>G, XM_017006641.1:c.2405C>T, XM_017006641.1:c.2405C>G, XM_017006642.2:c.2405C>T, XM_017006642.2:c.2405C>G, XM_017006642.1:c.2405C>T, XM_017006642.1:c.2405C>G, NM_001042604.1:c.2405C>T, NM_001042604.1:c.2405C>G, XM_047448356.1:c.2405C>T, XM_047448356.1:c.2405C>G, XM_047448357.1:c.2405C>T, XM_047448357.1:c.2405C>G, XM_047448358.1:c.1775C>T, XM_047448358.1:c.1775C>G, XM_047448359.1:c.2405C>T, XM_047448359.1:c.2405C>G, NP_061874.3:p.Thr802Ile, NP_061874.3:p.Thr802Arg, XP_011511221.1:p.Thr802Ile, XP_011511221.1:p.Thr802Arg, XP_011511222.1:p.Thr802Ile, XP_011511222.1:p.Thr802Arg, XP_006713736.1:p.Thr802Ile, XP_006713736.1:p.Thr802Arg, NP_001269786.1:p.Thr802Ile, NP_001269786.1:p.Thr802Arg, XP_016862129.1:p.Thr802Ile, XP_016862129.1:p.Thr802Arg, XP_016862130.1:p.Thr802Ile, XP_016862130.1:p.Thr802Arg, XP_016862131.1:p.Thr802Ile, XP_016862131.1:p.Thr802Arg, XP_047304312.1:p.Thr802Ile, XP_047304312.1:p.Thr802Arg, XP_047304313.1:p.Thr802Ile, XP_047304313.1:p.Thr802Arg, XP_047304314.1:p.Thr592Ile, XP_047304314.1:p.Thr592Arg, XP_047304315.1:p.Thr802Ile, XP_047304315.1:p.Thr802Arg

Select item 14865741867.

rs1486574186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:142370542 (GRCh38)
3:142089384 (GRCh37)
Canonical SPDI:: NC_000003.12:142370541:T:C
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142370542T>C, NC_000003.11:g.142089384T>C, NM_019001.5:c.3147A>G, NM_019001.4:c.3147A>G, NM_019001.3:c.3147A>G, XM_011512919.3:c.3147A>G, XM_011512919.2:c.3147A>G, XM_011512919.1:c.3147A>G, XM_011512920.3:c.3147A>G, XM_011512920.2:c.3147A>G, XM_011512920.1:c.3147A>G, NM_001282857.2:c.3147A>G, NM_001282857.1:c.3147A>G, XM_017006640.2:c.3147A>G, XM_017006640.1:c.3147A>G, XM_017006641.2:c.3147A>G, XM_017006641.1:c.3147A>G, XM_017006642.2:c.3147A>G, XM_017006642.1:c.3147A>G, NM_001042604.1:c.3147A>G, XM_047448356.1:c.3147A>G, XM_047448357.1:c.3147A>G, XM_047448358.1:c.2517A>G, XM_047448359.1:c.3147A>G

Select item 14863739468.

rs1486373946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:142332534 (GRCh38)
3:142051376 (GRCh37)
Canonical SPDI:: NC_000003.12:142332533:T:C
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.142332534T>C, NC_000003.11:g.142051376T>C, XM_011512919.3:c.4063A>G, XM_011512919.2:c.4063A>G, XM_011512919.1:c.4063A>G, XM_011512920.3:c.4063A>G, XM_011512920.2:c.4063A>G, XM_011512920.1:c.4063A>G, NM_001282857.2:c.4063A>G, NM_001282857.1:c.4063A>G, XM_017006641.2:c.4063A>G, XM_017006641.1:c.4063A>G, XM_047448358.1:c.3433A>G, XM_047448359.1:c.4063A>G, XP_011511221.1:p.Lys1355Glu, XP_011511222.1:p.Lys1355Glu, NP_001269786.1:p.Lys1355Glu, XP_016862130.1:p.Lys1355Glu, XP_047304314.1:p.Lys1145Glu, XP_047304315.1:p.Lys1355Glu

Select item 14859299849.

rs1485929984 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:142426803 (GRCh38)
3:142145645 (GRCh37)
Canonical SPDI:: NC_000003.12:142426802:A:G,NC_000003.12:142426802:A:T
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142426803A>G, NC_000003.12:g.142426803A>T, NC_000003.11:g.142145645A>G, NC_000003.11:g.142145645A>T, NM_019001.5:c.347T>C, NM_019001.5:c.347T>A, NM_019001.4:c.347T>C, NM_019001.4:c.347T>A, NM_019001.3:c.347T>C, NM_019001.3:c.347T>A, XM_011512919.3:c.347T>C, XM_011512919.3:c.347T>A, XM_011512919.2:c.347T>C, XM_011512919.2:c.347T>A, XM_011512919.1:c.347T>C, XM_011512919.1:c.347T>A, XM_011512920.3:c.347T>C, XM_011512920.3:c.347T>A, XM_011512920.2:c.347T>C, XM_011512920.2:c.347T>A, XM_011512920.1:c.347T>C, XM_011512920.1:c.347T>A, XM_006713673.3:c.347T>C, XM_006713673.3:c.347T>A, XM_006713673.2:c.347T>C, XM_006713673.2:c.347T>A, XM_006713673.1:c.347T>C, XM_006713673.1:c.347T>A, NM_001282857.2:c.347T>C, NM_001282857.2:c.347T>A, NM_001282857.1:c.347T>C, NM_001282857.1:c.347T>A, XM_017006640.2:c.347T>C, XM_017006640.2:c.347T>A, XM_017006640.1:c.347T>C, XM_017006640.1:c.347T>A, XM_017006641.2:c.347T>C, XM_017006641.2:c.347T>A, XM_017006641.1:c.347T>C, XM_017006641.1:c.347T>A, XM_017006642.2:c.347T>C, XM_017006642.2:c.347T>A, XM_017006642.1:c.347T>C, XM_017006642.1:c.347T>A, NM_001282859.2:c.347T>C, NM_001282859.2:c.347T>A, NM_001282859.1:c.347T>C, NM_001282859.1:c.347T>A, NM_001042604.1:c.347T>C, NM_001042604.1:c.347T>A, XM_047448356.1:c.347T>C, XM_047448356.1:c.347T>A, XM_047448357.1:c.347T>C, XM_047448357.1:c.347T>A, XM_047448359.1:c.347T>C, XM_047448359.1:c.347T>A, NP_061874.3:p.Ile116Thr, NP_061874.3:p.Ile116Lys, XP_011511221.1:p.Ile116Thr, XP_011511221.1:p.Ile116Lys, XP_011511222.1:p.Ile116Thr, XP_011511222.1:p.Ile116Lys, XP_006713736.1:p.Ile116Thr, XP_006713736.1:p.Ile116Lys, NP_001269786.1:p.Ile116Thr, NP_001269786.1:p.Ile116Lys, XP_016862129.1:p.Ile116Thr, XP_016862129.1:p.Ile116Lys, XP_016862130.1:p.Ile116Thr, XP_016862130.1:p.Ile116Lys, XP_016862131.1:p.Ile116Thr, XP_016862131.1:p.Ile116Lys, NP_001269788.1:p.Ile116Thr, NP_001269788.1:p.Ile116Lys, XP_047304312.1:p.Ile116Thr, XP_047304312.1:p.Ile116Lys, XP_047304313.1:p.Ile116Thr, XP_047304313.1:p.Ile116Lys, XP_047304315.1:p.Ile116Thr, XP_047304315.1:p.Ile116Lys

Select item 148562705310.

rs1485627053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:142412567 (GRCh38)
3:142131409 (GRCh37)
Canonical SPDI:: NC_000003.12:142412566:C:T
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142412567C>T, NC_000003.11:g.142131409C>T, NM_019001.5:c.1690G>A, NM_019001.4:c.1690G>A, NM_019001.3:c.1690G>A, XM_011512919.3:c.1690G>A, XM_011512919.2:c.1690G>A, XM_011512919.1:c.1690G>A, XM_011512920.3:c.1690G>A, XM_011512920.2:c.1690G>A, XM_011512920.1:c.1690G>A, XM_006713673.3:c.1690G>A, XM_006713673.2:c.1690G>A, XM_006713673.1:c.1690G>A, NM_001282857.2:c.1690G>A, NM_001282857.1:c.1690G>A, XM_017006640.2:c.1690G>A, XM_017006640.1:c.1690G>A, XM_017006641.2:c.1690G>A, XM_017006641.1:c.1690G>A, XM_017006642.2:c.1690G>A, XM_017006642.1:c.1690G>A, NM_001042604.1:c.1690G>A, XM_047448356.1:c.1690G>A, XM_047448357.1:c.1690G>A, XM_047448358.1:c.1060G>A, XM_047448359.1:c.1690G>A, NP_061874.3:p.Val564Met, XP_011511221.1:p.Val564Met, XP_011511222.1:p.Val564Met, XP_006713736.1:p.Val564Met, NP_001269786.1:p.Val564Met, XP_016862129.1:p.Val564Met, XP_016862130.1:p.Val564Met, XP_016862131.1:p.Val564Met, XP_047304312.1:p.Val564Met, XP_047304313.1:p.Val564Met, XP_047304314.1:p.Val354Met, XP_047304315.1:p.Val564Met

Select item 148372125011.

rs1483721250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:142365128 (GRCh38)
3:142083970 (GRCh37)
Canonical SPDI:: NC_000003.12:142365127:G:C
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.142365128G>C, NC_000003.11:g.142083970G>C, NM_019001.5:c.3313C>G, NM_019001.4:c.3313C>G, NM_019001.3:c.3313C>G, XM_011512919.3:c.3313C>G, XM_011512919.2:c.3313C>G, XM_011512919.1:c.3313C>G, XM_011512920.3:c.3313C>G, XM_011512920.2:c.3313C>G, XM_011512920.1:c.3313C>G, NM_001282857.2:c.3313C>G, NM_001282857.1:c.3313C>G, XM_017006640.2:c.3313C>G, XM_017006640.1:c.3313C>G, XM_017006641.2:c.3313C>G, XM_017006641.1:c.3313C>G, XM_017006642.2:c.3313C>G, XM_017006642.1:c.3313C>G, NM_001042604.1:c.3313C>G, XM_047448356.1:c.3313C>G, XM_047448357.1:c.3313C>G, XM_047448358.1:c.2683C>G, XM_047448359.1:c.3313C>G, NP_061874.3:p.Leu1105Val, XP_011511221.1:p.Leu1105Val, XP_011511222.1:p.Leu1105Val, NP_001269786.1:p.Leu1105Val, XP_016862129.1:p.Leu1105Val, XP_016862130.1:p.Leu1105Val, XP_016862131.1:p.Leu1105Val, XP_047304312.1:p.Leu1105Val, XP_047304313.1:p.Leu1105Val, XP_047304314.1:p.Leu895Val, XP_047304315.1:p.Leu1105Val

Select item 148339532712.

rs1483395327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:142332399 (GRCh38)
3:142051241 (GRCh37)
Canonical SPDI:: NC_000003.12:142332398:G:A,NC_000003.12:142332398:G:C
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142332399G>A, NC_000003.12:g.142332399G>C, NC_000003.11:g.142051241G>A, NC_000003.11:g.142051241G>C, NM_019001.5:c.4195C>T, NM_019001.5:c.4195C>G, NM_019001.4:c.4195C>T, NM_019001.4:c.4195C>G, NM_019001.3:c.4195C>T, NM_019001.3:c.4195C>G, XM_011512919.3:c.4198C>T, XM_011512919.3:c.4198C>G, XM_011512919.2:c.4198C>T, XM_011512919.2:c.4198C>G, XM_011512919.1:c.4198C>T, XM_011512919.1:c.4198C>G, XM_011512920.3:c.4198C>T, XM_011512920.3:c.4198C>G, XM_011512920.2:c.4198C>T, XM_011512920.2:c.4198C>G, XM_011512920.1:c.4198C>T, XM_011512920.1:c.4198C>G, NM_001282857.2:c.4198C>T, NM_001282857.2:c.4198C>G, NM_001282857.1:c.4198C>T, NM_001282857.1:c.4198C>G, XM_017006640.2:c.4195C>T, XM_017006640.2:c.4195C>G, XM_017006640.1:c.4195C>T, XM_017006640.1:c.4195C>G, XM_017006641.2:c.4198C>T, XM_017006641.2:c.4198C>G, XM_017006641.1:c.4198C>T, XM_017006641.1:c.4198C>G, XM_017006642.2:c.*17C>T, XM_017006642.2:c.*17C>G, XM_017006642.1:c.*17C>T, XM_017006642.1:c.*17C>G, NM_001042604.1:c.4195C>T, NM_001042604.1:c.4195C>G, XM_047448356.1:c.4195C>T, XM_047448356.1:c.4195C>G, XM_047448357.1:c.4195C>T, XM_047448357.1:c.4195C>G, XM_047448358.1:c.3568C>T, XM_047448358.1:c.3568C>G, XM_047448359.1:c.4198C>T, XM_047448359.1:c.4198C>G, NP_061874.3:p.Gln1399Ter, NP_061874.3:p.Gln1399Glu, XP_011511221.1:p.Gln1400Ter, XP_011511221.1:p.Gln1400Glu, XP_011511222.1:p.Gln1400Ter, XP_011511222.1:p.Gln1400Glu, NP_001269786.1:p.Gln1400Ter, NP_001269786.1:p.Gln1400Glu, XP_016862129.1:p.Gln1399Ter, XP_016862129.1:p.Gln1399Glu, XP_016862130.1:p.Gln1400Ter, XP_016862130.1:p.Gln1400Glu, XP_047304312.1:p.Gln1399Ter, XP_047304312.1:p.Gln1399Glu, XP_047304313.1:p.Gln1399Ter, XP_047304313.1:p.Gln1399Glu, XP_047304314.1:p.Gln1190Ter, XP_047304314.1:p.Gln1190Glu, XP_047304315.1:p.Gln1400Ter, XP_047304315.1:p.Gln1400Glu

Select item 148241018213.

rs1482410182 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:142376553 (GRCh38)
3:142095395 (GRCh37)
Canonical SPDI:: NC_000003.12:142376552:A:G
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.142376553A>G, NC_000003.11:g.142095395A>G, NM_019001.5:c.2757T>C, NM_019001.4:c.2757T>C, NM_019001.3:c.2757T>C, XM_011512919.3:c.2757T>C, XM_011512919.2:c.2757T>C, XM_011512919.1:c.2757T>C, XM_011512920.3:c.2757T>C, XM_011512920.2:c.2757T>C, XM_011512920.1:c.2757T>C, XM_006713673.3:c.*69T>C, XM_006713673.2:c.*69T>C, NM_001282857.2:c.2757T>C, NM_001282857.1:c.2757T>C, XM_017006640.2:c.2757T>C, XM_017006640.1:c.2757T>C, XM_017006641.2:c.2757T>C, XM_017006641.1:c.2757T>C, XM_017006642.2:c.2757T>C, XM_017006642.1:c.2757T>C, NM_001042604.1:c.2757T>C, XM_047448356.1:c.2757T>C, XM_047448357.1:c.2757T>C, XM_047448358.1:c.2127T>C, XM_047448359.1:c.2757T>C

Select item 148216920914.

rs1482169209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:142329510 (GRCh38)
3:142048352 (GRCh37)
Canonical SPDI:: NC_000003.12:142329509:G:A
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.142329510G>A, NC_000003.11:g.142048352G>A, NM_019001.5:c.4325C>T, NM_019001.4:c.4325C>T, NM_019001.3:c.4325C>T, XM_011512919.3:c.4328C>T, XM_011512919.2:c.4328C>T, XM_011512919.1:c.4328C>T, XM_011512920.3:c.4328C>T, XM_011512920.2:c.4328C>T, XM_011512920.1:c.4328C>T, NM_001282857.2:c.4328C>T, NM_001282857.1:c.4328C>T, XM_017006640.2:c.4325C>T, XM_017006640.1:c.4325C>T, XM_017006641.2:c.4328C>T, XM_017006641.1:c.4328C>T, NM_001042604.1:c.4325C>T, XM_047448356.1:c.4325C>T, XM_047448357.1:c.4325C>T, XM_047448358.1:c.3698C>T, XM_047448359.1:c.*75C>T, NP_061874.3:p.Pro1442Leu, XP_011511221.1:p.Pro1443Leu, XP_011511222.1:p.Pro1443Leu, NP_001269786.1:p.Pro1443Leu, XP_016862129.1:p.Pro1442Leu, XP_016862130.1:p.Pro1443Leu, XP_047304312.1:p.Pro1442Leu, XP_047304313.1:p.Pro1442Leu, XP_047304314.1:p.Pro1233Leu

Select item 148193565315.

rs1481935653 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:142403931 (GRCh38)
3:142122774 (GRCh37)
Canonical SPDI:: NC_000003.12:142403931:GG:GGG
Gene:: XRN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142403933dup, NC_000003.11:g.142122775dup, NM_019001.5:c.1941dup, NM_019001.4:c.1941dup, NM_019001.3:c.1941dup, XM_011512919.3:c.1941dup, XM_011512919.2:c.1941dup, XM_011512919.1:c.1941dup, XM_011512920.3:c.1941dup, XM_011512920.2:c.1941dup, XM_011512920.1:c.1941dup, XM_006713673.3:c.1941dup, XM_006713673.2:c.1941dup, XM_006713673.1:c.1941dup, NM_001282857.2:c.1941dup, NM_001282857.1:c.1941dup, XM_017006640.2:c.1941dup, XM_017006640.1:c.1941dup, XM_017006641.2:c.1941dup, XM_017006641.1:c.1941dup, XM_017006642.2:c.1941dup, XM_017006642.1:c.1941dup, NM_001042604.1:c.1941dup, XM_047448356.1:c.1941dup, XM_047448357.1:c.1941dup, XM_047448358.1:c.1311dup, XM_047448359.1:c.1941dup, NP_061874.3:p.Arg648fs, XP_011511221.1:p.Arg648fs, XP_011511222.1:p.Arg648fs, XP_006713736.1:p.Arg648fs, NP_001269786.1:p.Arg648fs, XP_016862129.1:p.Arg648fs, XP_016862130.1:p.Arg648fs, XP_016862131.1:p.Arg648fs, XP_047304312.1:p.Arg648fs, XP_047304313.1:p.Arg648fs, XP_047304314.1:p.Arg438fs, XP_047304315.1:p.Arg648fs

Select item 148147306816.

rs1481473068 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:142335486 (GRCh38)
3:142054328 (GRCh37)
Canonical SPDI:: NC_000003.12:142335485:T:C
Gene:: XRN1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142335486T>C, NC_000003.11:g.142054328T>C, NM_019001.5:c.3901A>G, NM_019001.4:c.3901A>G, NM_019001.3:c.3901A>G, XM_011512919.3:c.3901A>G, XM_011512919.2:c.3901A>G, XM_011512919.1:c.3901A>G, XM_011512920.3:c.3901A>G, XM_011512920.2:c.3901A>G, XM_011512920.1:c.3901A>G, NM_001282857.2:c.3901A>G, NM_001282857.1:c.3901A>G, XM_017006640.2:c.3901A>G, XM_017006640.1:c.3901A>G, XM_017006641.2:c.3901A>G, XM_017006641.1:c.3901A>G, XM_017006642.2:c.3901A>G, XM_017006642.1:c.3901A>G, NM_001042604.1:c.3901A>G, XM_047448356.1:c.3901A>G, XM_047448357.1:c.3901A>G, XM_047448358.1:c.3271A>G, XM_047448359.1:c.3901A>G, NP_061874.3:p.Lys1301Glu, XP_011511221.1:p.Lys1301Glu, XP_011511222.1:p.Lys1301Glu, NP_001269786.1:p.Lys1301Glu, XP_016862129.1:p.Lys1301Glu, XP_016862130.1:p.Lys1301Glu, XP_016862131.1:p.Lys1301Glu, XP_047304312.1:p.Lys1301Glu, XP_047304313.1:p.Lys1301Glu, XP_047304314.1:p.Lys1091Glu, XP_047304315.1:p.Lys1301Glu

Select item 148085016617.

rs1480850166 [Homo sapiens]

Variant type:: DEL
Alleles:: GTCTCATCTTCT>- [Show Flanks]
Chromosome:: 3:142418591 (GRCh38)
3:142137433 (GRCh37)
Canonical SPDI:: NC_000003.12:142418590:GTCTCATCTTCT:
Gene:: XRN1 (Varview)
Functional Consequence:: inframe_indel,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000003.12:g.142418591_142418602del, NC_000003.11:g.142137433_142137444del, NM_019001.5:c.1248_1259del, NM_019001.4:c.1248_1259del, NM_019001.3:c.1248_1259del, XM_011512919.3:c.1248_1259del, XM_011512919.2:c.1248_1259del, XM_011512919.1:c.1248_1259del, XM_011512920.3:c.1248_1259del, XM_011512920.2:c.1248_1259del, XM_011512920.1:c.1248_1259del, XM_006713673.3:c.1248_1259del, XM_006713673.2:c.1248_1259del, XM_006713673.1:c.1248_1259del, NM_001282857.2:c.1248_1259del, NM_001282857.1:c.1248_1259del, XM_017006640.2:c.1248_1259del, XM_017006640.1:c.1248_1259del, XM_017006641.2:c.1248_1259del, XM_017006641.1:c.1248_1259del, XM_017006642.2:c.1248_1259del, XM_017006642.1:c.1248_1259del, NM_001282859.2:c.1248_1259del, NM_001282859.1:c.1248_1259del, NM_001042604.1:c.1248_1259del, XM_047448356.1:c.1248_1259del, XM_047448357.1:c.1248_1259del, XM_047448358.1:c.618_629del, XM_047448359.1:c.1248_1259del, NP_061874.3:p.Leu416_Thr420delinsPhe, XP_011511221.1:p.Leu416_Thr420delinsPhe, XP_011511222.1:p.Leu416_Thr420delinsPhe, XP_006713736.1:p.Leu416_Thr420delinsPhe, NP_001269786.1:p.Leu416_Thr420delinsPhe, XP_016862129.1:p.Leu416_Thr420delinsPhe, XP_016862130.1:p.Leu416_Thr420delinsPhe, XP_016862131.1:p.Leu416_Thr420delinsPhe, NP_001269788.1:p.Leu416_Thr420delinsPhe, XP_047304312.1:p.Leu416_Thr420delinsPhe, XP_047304313.1:p.Leu416_Thr420delinsPhe, XP_047304314.1:p.Leu206_Thr210delinsPhe, XP_047304315.1:p.Leu416_Thr420delinsPhe

Select item 147878149418.

rs1478781494 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:142418590 (GRCh38)
3:142137432 (GRCh37)
Canonical SPDI:: NC_000003.12:142418589:A:G
Gene:: XRN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.142418590A>G, NC_000003.11:g.142137432A>G, NM_019001.5:c.1260T>C, NM_019001.4:c.1260T>C, NM_019001.3:c.1260T>C, XM_011512919.3:c.1260T>C, XM_011512919.2:c.1260T>C, XM_011512919.1:c.1260T>C, XM_011512920.3:c.1260T>C, XM_011512920.2:c.1260T>C, XM_011512920.1:c.1260T>C, XM_006713673.3:c.1260T>C, XM_006713673.2:c.1260T>C, XM_006713673.1:c.1260T>C, NM_001282857.2:c.1260T>C, NM_001282857.1:c.1260T>C, XM_017006640.2:c.1260T>C, XM_017006640.1:c.1260T>C, XM_017006641.2:c.1260T>C, XM_017006641.1:c.1260T>C, XM_017006642.2:c.1260T>C, XM_017006642.1:c.1260T>C, NM_001282859.2:c.1260T>C, NM_001282859.1:c.1260T>C, NM_001042604.1:c.1260T>C, XM_047448356.1:c.1260T>C, XM_047448357.1:c.1260T>C, XM_047448358.1:c.630T>C, XM_047448359.1:c.1260T>C

Select item 147839167119.

rs1478391671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:142405029 (GRCh38)
3:142123871 (GRCh37)
Canonical SPDI:: NC_000003.12:142405028:C:A
Gene:: XRN1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.142405029C>A, NC_000003.11:g.142123871C>A, NM_019001.5:c.1761G>T, NM_019001.4:c.1761G>T, NM_019001.3:c.1761G>T, XM_011512919.3:c.1761G>T, XM_011512919.2:c.1761G>T, XM_011512919.1:c.1761G>T, XM_011512920.3:c.1761G>T, XM_011512920.2:c.1761G>T, XM_011512920.1:c.1761G>T, XM_006713673.3:c.1761G>T, XM_006713673.2:c.1761G>T, XM_006713673.1:c.1761G>T, NM_001282857.2:c.1761G>T, NM_001282857.1:c.1761G>T, XM_017006640.2:c.1761G>T, XM_017006640.1:c.1761G>T, XM_017006641.2:c.1761G>T, XM_017006641.1:c.1761G>T, XM_017006642.2:c.1761G>T, XM_017006642.1:c.1761G>T, NM_001042604.1:c.1761G>T, XM_047448356.1:c.1761G>T, XM_047448357.1:c.1761G>T, XM_047448358.1:c.1131G>T, XM_047448359.1:c.1761G>T, NP_061874.3:p.Lys587Asn, XP_011511221.1:p.Lys587Asn, XP_011511222.1:p.Lys587Asn, XP_006713736.1:p.Lys587Asn, NP_001269786.1:p.Lys587Asn, XP_016862129.1:p.Lys587Asn, XP_016862130.1:p.Lys587Asn, XP_016862131.1:p.Lys587Asn, XP_047304312.1:p.Lys587Asn, XP_047304313.1:p.Lys587Asn, XP_047304314.1:p.Lys377Asn, XP_047304315.1:p.Lys587Asn

Select item 147765020620.

rs1477650206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:142311696 (GRCh38)
3:142030538 (GRCh37)
Canonical SPDI:: NC_000003.12:142311695:G:A
Gene:: XRN1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.142311696G>A, NC_000003.11:g.142030538G>A, NM_019001.5:c.4936C>T, NM_019001.4:c.4936C>T, NM_019001.3:c.4936C>T, XM_011512919.3:c.4939C>T, XM_011512919.2:c.4939C>T, XM_011512919.1:c.4939C>T, XM_011512920.3:c.4825C>T, XM_011512920.2:c.4825C>T, XM_011512920.1:c.4825C>T, NM_001282857.2:c.4900C>T, NM_001282857.1:c.4900C>T, XM_017006640.2:c.4897C>T, XM_017006640.1:c.4897C>T, XM_017006641.2:c.4786C>T, XM_017006641.1:c.4786C>T, NM_001042604.1:c.4897C>T, XM_047448356.1:c.4822C>T, XM_047448357.1:c.4783C>T, XM_047448358.1:c.4309C>T, NP_061874.3:p.Pro1646Ser, XP_011511221.1:p.Pro1647Ser, XP_011511222.1:p.Pro1609Ser, NP_001269786.1:p.Pro1634Ser, XP_016862129.1:p.Pro1633Ser, XP_016862130.1:p.Pro1596Ser, XP_047304312.1:p.Pro1608Ser, XP_047304313.1:p.Pro1595Ser, XP_047304314.1:p.Pro1437Ser

<< First< Prev

Page of 67

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 1321

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity