SNP Links for Protein (Select 767970324) - SNP

Links from Protein

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Select item 14895956531.

rs1489595653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:114582299 (GRCh38)
11:114453021 (GRCh37)
Canonical SPDI:: NC_000011.10:114582298:G:T
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.114582299G>T, NC_000011.9:g.114453021G>T, XM_006718865.4:c.819C>A, XM_006718865.3:c.819C>A, XM_006718865.2:c.819C>A, XM_006718865.1:c.819C>A, XM_011542883.3:c.819C>A, XM_011542883.2:c.819C>A, XM_011542883.1:c.819C>A, XM_011542881.3:c.819C>A, XM_011542881.2:c.819C>A, XM_011542881.1:c.819C>A, XM_011542882.3:c.819C>A, XM_011542882.2:c.819C>A, XM_011542882.1:c.819C>A, NM_001077639.2:c.819C>A, NM_001077639.1:c.819C>A, XM_047427148.1:c.819C>A, XM_047427150.1:c.819C>A, XM_047427152.1:c.819C>A, XM_047427147.1:c.819C>A, XM_047427149.1:c.819C>A, XM_047427151.1:c.819C>A, XP_006718928.1:p.Ser273Arg, XP_011541185.1:p.Ser273Arg, XP_011541183.1:p.Ser273Arg, XP_011541184.1:p.Ser273Arg, NP_001071107.1:p.Ser273Arg, XP_047283104.1:p.Ser273Arg, XP_047283106.1:p.Ser273Arg, XP_047283108.1:p.Ser273Arg, XP_047283103.1:p.Ser273Arg, XP_047283105.1:p.Ser273Arg, XP_047283107.1:p.Ser273Arg

Select item 14833944472.

rs1483394447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:114571456 (GRCh38)
11:114442178 (GRCh37)
Canonical SPDI:: NC_000011.10:114571455:G:C
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.114571456G>C, NC_000011.9:g.114442178G>C, XM_011542881.3:c.1117C>G, XM_011542881.2:c.1117C>G, XM_011542881.1:c.1117C>G, XM_011542882.3:c.910C>G, XM_011542882.2:c.910C>G, XM_011542882.1:c.910C>G, NM_017678.3:c.265C>G, NM_017678.2:c.265C>G, NM_001077639.2:c.1117C>G, NM_001077639.1:c.1117C>G, XM_047427148.1:c.1117C>G, XM_047427150.1:c.1117C>G, XM_047427152.1:c.1117C>G, XM_047427147.1:c.1117C>G, XM_047427149.1:c.1117C>G, XM_047427151.1:c.1117C>G, XP_011541183.1:p.Leu373Val, XP_011541184.1:p.Leu304Val, NP_060148.2:p.Leu89Val, NP_001071107.1:p.Leu373Val, XP_047283104.1:p.Leu373Val, XP_047283106.1:p.Leu373Val, XP_047283108.1:p.Leu373Val, XP_047283103.1:p.Leu373Val, XP_047283105.1:p.Leu373Val, XP_047283107.1:p.Leu373Val

Select item 14830198953.

rs1483019895 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:114571008 (GRCh38)
11:114441730 (GRCh37)
Canonical SPDI:: NC_000011.10:114571007:G:A
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.114571008G>A, NC_000011.9:g.114441730G>A, XM_011542881.3:c.1565C>T, XM_011542881.2:c.1565C>T, XM_011542881.1:c.1565C>T, XM_011542882.3:c.1358C>T, XM_011542882.2:c.1358C>T, XM_011542882.1:c.1358C>T, NM_017678.3:c.713C>T, NM_017678.2:c.713C>T, NM_001077639.2:c.1565C>T, NM_001077639.1:c.1565C>T, XM_047427148.1:c.1565C>T, XM_047427150.1:c.1565C>T, XM_047427152.1:c.1565C>T, XM_047427147.1:c.1565C>T, XM_047427149.1:c.1565C>T, XM_047427151.1:c.1565C>T, XP_011541183.1:p.Thr522Ile, XP_011541184.1:p.Thr453Ile, NP_060148.2:p.Thr238Ile, NP_001071107.1:p.Thr522Ile, XP_047283104.1:p.Thr522Ile, XP_047283106.1:p.Thr522Ile, XP_047283108.1:p.Thr522Ile, XP_047283103.1:p.Thr522Ile, XP_047283105.1:p.Thr522Ile, XP_047283107.1:p.Thr522Ile

Select item 14815107164.

rs1481510716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:114582388 (GRCh38)
11:114453110 (GRCh37)
Canonical SPDI:: NC_000011.10:114582387:C:T
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.114582388C>T, NC_000011.9:g.114453110C>T, XM_006718865.4:c.730G>A, XM_006718865.3:c.730G>A, XM_006718865.2:c.730G>A, XM_006718865.1:c.730G>A, XM_011542883.3:c.730G>A, XM_011542883.2:c.730G>A, XM_011542883.1:c.730G>A, XM_011542881.3:c.730G>A, XM_011542881.2:c.730G>A, XM_011542881.1:c.730G>A, XM_011542882.3:c.730G>A, XM_011542882.2:c.730G>A, XM_011542882.1:c.730G>A, NM_001077639.2:c.730G>A, NM_001077639.1:c.730G>A, XM_047427148.1:c.730G>A, XM_047427150.1:c.730G>A, XM_047427152.1:c.730G>A, XM_047427147.1:c.730G>A, XM_047427149.1:c.730G>A, XM_047427151.1:c.730G>A, XP_006718928.1:p.Val244Met, XP_011541185.1:p.Val244Met, XP_011541183.1:p.Val244Met, XP_011541184.1:p.Val244Met, NP_001071107.1:p.Val244Met, XP_047283104.1:p.Val244Met, XP_047283106.1:p.Val244Met, XP_047283108.1:p.Val244Met, XP_047283103.1:p.Val244Met, XP_047283105.1:p.Val244Met, XP_047283107.1:p.Val244Met

Select item 14779842605.

rs1477984260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:114571430 (GRCh38)
11:114442152 (GRCh37)
Canonical SPDI:: NC_000011.10:114571429:G:A
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.114571430G>A, NC_000011.9:g.114442152G>A, XM_011542881.3:c.1143C>T, XM_011542881.2:c.1143C>T, XM_011542881.1:c.1143C>T, XM_011542882.3:c.936C>T, XM_011542882.2:c.936C>T, XM_011542882.1:c.936C>T, NM_017678.3:c.291C>T, NM_017678.2:c.291C>T, NM_001077639.2:c.1143C>T, NM_001077639.1:c.1143C>T, XM_047427148.1:c.1143C>T, XM_047427150.1:c.1143C>T, XM_047427152.1:c.1143C>T, XM_047427147.1:c.1143C>T, XM_047427149.1:c.1143C>T, XM_047427151.1:c.1143C>T

Select item 14767654096.

rs1476765409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:114582541 (GRCh38)
11:114453263 (GRCh37)
Canonical SPDI:: NC_000011.10:114582540:T:C
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.114582541T>C, NC_000011.9:g.114453263T>C, XM_006718865.4:c.577A>G, XM_006718865.3:c.577A>G, XM_006718865.2:c.577A>G, XM_006718865.1:c.577A>G, XM_011542883.3:c.577A>G, XM_011542883.2:c.577A>G, XM_011542883.1:c.577A>G, XM_011542881.3:c.577A>G, XM_011542881.2:c.577A>G, XM_011542881.1:c.577A>G, XM_011542882.3:c.577A>G, XM_011542882.2:c.577A>G, XM_011542882.1:c.577A>G, NM_001077639.2:c.577A>G, NM_001077639.1:c.577A>G, XM_047427148.1:c.577A>G, XM_047427150.1:c.577A>G, XM_047427152.1:c.577A>G, XM_047427147.1:c.577A>G, XM_047427149.1:c.577A>G, XM_047427151.1:c.577A>G, XP_006718928.1:p.Ser193Gly, XP_011541185.1:p.Ser193Gly, XP_011541183.1:p.Ser193Gly, XP_011541184.1:p.Ser193Gly, NP_001071107.1:p.Ser193Gly, XP_047283104.1:p.Ser193Gly, XP_047283106.1:p.Ser193Gly, XP_047283108.1:p.Ser193Gly, XP_047283103.1:p.Ser193Gly, XP_047283105.1:p.Ser193Gly, XP_047283107.1:p.Ser193Gly

Select item 14755361017.

rs1475536101 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:114571289 (GRCh38)
11:114442012 (GRCh37)
Canonical SPDI:: NC_000011.10:114571289:TTTTTTT:TTTTTTTT
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.114571296dup, NC_000011.9:g.114442018dup, XM_011542881.3:c.1283dup, XM_011542881.2:c.1283dup, XM_011542881.1:c.1283dup, XM_011542882.3:c.1076dup, XM_011542882.2:c.1076dup, XM_011542882.1:c.1076dup, NM_017678.3:c.431dup, NM_017678.2:c.431dup, NM_001077639.2:c.1283dup, NM_001077639.1:c.1283dup, XM_047427148.1:c.1283dup, XM_047427150.1:c.1283dup, XM_047427152.1:c.1283dup, XM_047427147.1:c.1283dup, XM_047427149.1:c.1283dup, XM_047427151.1:c.1283dup, XP_011541183.1:p.Asn428fs, XP_011541184.1:p.Asn359fs, NP_060148.2:p.Asn144fs, NP_001071107.1:p.Asn428fs, XP_047283104.1:p.Asn428fs, XP_047283106.1:p.Asn428fs, XP_047283108.1:p.Asn428fs, XP_047283103.1:p.Asn428fs, XP_047283105.1:p.Asn428fs, XP_047283107.1:p.Asn428fs

Select item 14755289058.

rs1475528905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:114571017 (GRCh38)
11:114441739 (GRCh37)
Canonical SPDI:: NC_000011.10:114571016:G:A
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.114571017G>A, NC_000011.9:g.114441739G>A, XM_011542881.3:c.1556C>T, XM_011542881.2:c.1556C>T, XM_011542881.1:c.1556C>T, XM_011542882.3:c.1349C>T, XM_011542882.2:c.1349C>T, XM_011542882.1:c.1349C>T, NM_017678.3:c.704C>T, NM_017678.2:c.704C>T, NM_001077639.2:c.1556C>T, NM_001077639.1:c.1556C>T, XM_047427148.1:c.1556C>T, XM_047427150.1:c.1556C>T, XM_047427152.1:c.1556C>T, XM_047427147.1:c.1556C>T, XM_047427149.1:c.1556C>T, XM_047427151.1:c.1556C>T, XP_011541183.1:p.Ala519Val, XP_011541184.1:p.Ala450Val, NP_060148.2:p.Ala235Val, NP_001071107.1:p.Ala519Val, XP_047283104.1:p.Ala519Val, XP_047283106.1:p.Ala519Val, XP_047283108.1:p.Ala519Val, XP_047283103.1:p.Ala519Val, XP_047283105.1:p.Ala519Val, XP_047283107.1:p.Ala519Val

Select item 14755098169.

rs1475509816 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAT>- [Show Flanks]
Chromosome:: 11:114594745 (GRCh38)
11:114465467 (GRCh37)
Canonical SPDI:: NC_000011.10:114594742:ATCAT:AT
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.114594745_114594747del, NC_000011.9:g.114465467_114465469del, XM_006718865.4:c.15_17del, XM_006718865.3:c.15_17del, XM_006718865.2:c.15_17del, XM_006718865.1:c.15_17del, XM_011542883.3:c.15_17del, XM_011542883.2:c.15_17del, XM_011542883.1:c.15_17del, XM_011542881.3:c.15_17del, XM_011542881.2:c.15_17del, XM_011542881.1:c.15_17del, XM_011542882.3:c.15_17del, XM_011542882.2:c.15_17del, XM_011542882.1:c.15_17del, NM_017678.3:c.-374_-372del, NM_017678.2:c.-374_-372del, NM_001077639.2:c.15_17del, NM_001077639.1:c.15_17del, XM_047427148.1:c.15_17del, XM_047427150.1:c.15_17del, XM_047427152.1:c.15_17del, XM_047427147.1:c.15_17del, XM_047427149.1:c.15_17del, XM_047427151.1:c.15_17del, XP_006718928.1:p.Met5del, XP_011541185.1:p.Met5del, XP_011541183.1:p.Met5del, XP_011541184.1:p.Met5del, NP_001071107.1:p.Met5del, XP_047283104.1:p.Met5del, XP_047283106.1:p.Met5del, XP_047283108.1:p.Met5del, XP_047283103.1:p.Met5del, XP_047283105.1:p.Met5del, XP_047283107.1:p.Met5del

Select item 147447695110.

rs1474476951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:114571317 (GRCh38)
11:114442039 (GRCh37)
Canonical SPDI:: NC_000011.10:114571316:G:T
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.114571317G>T, NC_000011.9:g.114442039G>T, XM_011542881.3:c.1256C>A, XM_011542881.2:c.1256C>A, XM_011542881.1:c.1256C>A, XM_011542882.3:c.1049C>A, XM_011542882.2:c.1049C>A, XM_011542882.1:c.1049C>A, NM_017678.3:c.404C>A, NM_017678.2:c.404C>A, NM_001077639.2:c.1256C>A, NM_001077639.1:c.1256C>A, XM_047427148.1:c.1256C>A, XM_047427150.1:c.1256C>A, XM_047427152.1:c.1256C>A, XM_047427147.1:c.1256C>A, XM_047427149.1:c.1256C>A, XM_047427151.1:c.1256C>A, XP_011541183.1:p.Ala419Asp, XP_011541184.1:p.Ala350Asp, NP_060148.2:p.Ala135Asp, NP_001071107.1:p.Ala419Asp, XP_047283104.1:p.Ala419Asp, XP_047283106.1:p.Ala419Asp, XP_047283108.1:p.Ala419Asp, XP_047283103.1:p.Ala419Asp, XP_047283105.1:p.Ala419Asp, XP_047283107.1:p.Ala419Asp

Select item 147247761211.

rs1472477612 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 11:114594734 (GRCh38)
11:114465456 (GRCh37)
Canonical SPDI:: NC_000011.10:114594733:TT:
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.114594734_114594735del, NC_000011.9:g.114465456_114465457del, XM_006718865.4:c.25_26del, XM_006718865.3:c.25_26del, XM_006718865.2:c.25_26del, XM_006718865.1:c.25_26del, XM_011542883.3:c.25_26del, XM_011542883.2:c.25_26del, XM_011542883.1:c.25_26del, XM_011542881.3:c.25_26del, XM_011542881.2:c.25_26del, XM_011542881.1:c.25_26del, XM_011542882.3:c.25_26del, XM_011542882.2:c.25_26del, XM_011542882.1:c.25_26del, NM_017678.3:c.-364_-363del, NM_017678.2:c.-364_-363del, NM_001077639.2:c.25_26del, NM_001077639.1:c.25_26del, XM_047427148.1:c.25_26del, XM_047427150.1:c.25_26del, XM_047427152.1:c.25_26del, XM_047427147.1:c.25_26del, XM_047427149.1:c.25_26del, XM_047427151.1:c.25_26del, XP_006718928.1:p.Lys9fs, XP_011541185.1:p.Lys9fs, XP_011541183.1:p.Lys9fs, XP_011541184.1:p.Lys9fs, NP_001071107.1:p.Lys9fs, XP_047283104.1:p.Lys9fs, XP_047283106.1:p.Lys9fs, XP_047283108.1:p.Lys9fs, XP_047283103.1:p.Lys9fs, XP_047283105.1:p.Lys9fs, XP_047283107.1:p.Lys9fs

Select item 147228895312.

rs1472288953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:114571213 (GRCh38)
11:114441935 (GRCh37)
Canonical SPDI:: NC_000011.10:114571212:C:T
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.114571213C>T, NC_000011.9:g.114441935C>T, XM_011542881.3:c.1360G>A, XM_011542881.2:c.1360G>A, XM_011542881.1:c.1360G>A, XM_011542882.3:c.1153G>A, XM_011542882.2:c.1153G>A, XM_011542882.1:c.1153G>A, NM_017678.3:c.508G>A, NM_017678.2:c.508G>A, NM_001077639.2:c.1360G>A, NM_001077639.1:c.1360G>A, XM_047427148.1:c.1360G>A, XM_047427150.1:c.1360G>A, XM_047427152.1:c.1360G>A, XM_047427147.1:c.1360G>A, XM_047427149.1:c.1360G>A, XM_047427151.1:c.1360G>A, XP_011541183.1:p.Val454Ile, XP_011541184.1:p.Val385Ile, NP_060148.2:p.Val170Ile, NP_001071107.1:p.Val454Ile, XP_047283104.1:p.Val454Ile, XP_047283106.1:p.Val454Ile, XP_047283108.1:p.Val454Ile, XP_047283103.1:p.Val454Ile, XP_047283105.1:p.Val454Ile, XP_047283107.1:p.Val454Ile

Select item 146755949813.

rs1467559498 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:114582459 (GRCh38)
11:114453181 (GRCh37)
Canonical SPDI:: NC_000011.10:114582458:CC:C
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.114582460del, NC_000011.9:g.114453182del, XM_006718865.4:c.659del, XM_006718865.3:c.659del, XM_006718865.2:c.659del, XM_006718865.1:c.659del, XM_011542883.3:c.659del, XM_011542883.2:c.659del, XM_011542883.1:c.659del, XM_011542881.3:c.659del, XM_011542881.2:c.659del, XM_011542881.1:c.659del, XM_011542882.3:c.659del, XM_011542882.2:c.659del, XM_011542882.1:c.659del, NM_001077639.2:c.659del, NM_001077639.1:c.659del, XM_047427148.1:c.659del, XM_047427150.1:c.659del, XM_047427152.1:c.659del, XM_047427147.1:c.659del, XM_047427149.1:c.659del, XM_047427151.1:c.659del, XP_006718928.1:p.Gly220fs, XP_011541185.1:p.Gly220fs, XP_011541183.1:p.Gly220fs, XP_011541184.1:p.Gly220fs, NP_001071107.1:p.Gly220fs, XP_047283104.1:p.Gly220fs, XP_047283106.1:p.Gly220fs, XP_047283108.1:p.Gly220fs, XP_047283103.1:p.Gly220fs, XP_047283105.1:p.Gly220fs, XP_047283107.1:p.Gly220fs

Select item 146726683314.

rs1467266833 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:114581754 (GRCh38)
11:114452476 (GRCh37)
Canonical SPDI:: NC_000011.10:114581753:A:G
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.114581754A>G, NC_000011.9:g.114452476A>G, XM_006718865.4:c.863T>C, XM_006718865.3:c.863T>C, XM_006718865.2:c.863T>C, XM_006718865.1:c.863T>C, XM_011542883.3:c.863T>C, XM_011542883.2:c.863T>C, XM_011542883.1:c.863T>C, XM_011542881.3:c.863T>C, XM_011542881.2:c.863T>C, XM_011542881.1:c.863T>C, XM_011542882.3:c.863T>C, XM_011542882.2:c.863T>C, XM_011542882.1:c.863T>C, NM_017678.3:c.11T>C, NM_017678.2:c.11T>C, NM_001077639.2:c.863T>C, NM_001077639.1:c.863T>C, XM_047427148.1:c.863T>C, XM_047427150.1:c.863T>C, XM_047427152.1:c.863T>C, XM_047427147.1:c.863T>C, XM_047427149.1:c.863T>C, XM_047427151.1:c.863T>C, XP_006718928.1:p.Phe288Ser, XP_011541185.1:p.Phe288Ser, XP_011541183.1:p.Phe288Ser, XP_011541184.1:p.Phe288Ser, NP_060148.2:p.Phe4Ser, NP_001071107.1:p.Phe288Ser, XP_047283104.1:p.Phe288Ser, XP_047283106.1:p.Phe288Ser, XP_047283108.1:p.Phe288Ser, XP_047283103.1:p.Phe288Ser, XP_047283105.1:p.Phe288Ser, XP_047283107.1:p.Phe288Ser

Select item 146613704415.

rs1466137044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:114582862 (GRCh38)
11:114453584 (GRCh37)
Canonical SPDI:: NC_000011.10:114582861:T:C
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_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_000011.10:g.114582862T>C, NC_000011.9:g.114453584T>C, XM_006718865.4:c.256A>G, XM_006718865.3:c.256A>G, XM_006718865.2:c.256A>G, XM_006718865.1:c.256A>G, XM_011542883.3:c.256A>G, XM_011542883.2:c.256A>G, XM_011542883.1:c.256A>G, XM_011542881.3:c.256A>G, XM_011542881.2:c.256A>G, XM_011542881.1:c.256A>G, XM_011542882.3:c.256A>G, XM_011542882.2:c.256A>G, XM_011542882.1:c.256A>G, NM_017678.3:c.-133A>G, NM_017678.2:c.-133A>G, NM_001077639.2:c.256A>G, NM_001077639.1:c.256A>G, XM_047427148.1:c.256A>G, XM_047427150.1:c.256A>G, XM_047427152.1:c.256A>G, XM_047427147.1:c.256A>G, XM_047427149.1:c.256A>G, XM_047427151.1:c.256A>G, XP_006718928.1:p.Arg86Gly, XP_011541185.1:p.Arg86Gly, XP_011541183.1:p.Arg86Gly, XP_011541184.1:p.Arg86Gly, NP_001071107.1:p.Arg86Gly, XP_047283104.1:p.Arg86Gly, XP_047283106.1:p.Arg86Gly, XP_047283108.1:p.Arg86Gly, XP_047283103.1:p.Arg86Gly, XP_047283105.1:p.Arg86Gly, XP_047283107.1:p.Arg86Gly

Select item 146596574616.

rs1465965746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:114582703 (GRCh38)
11:114453425 (GRCh37)
Canonical SPDI:: NC_000011.10:114582702:T:C
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.114582703T>C, NC_000011.9:g.114453425T>C, XM_006718865.4:c.415A>G, XM_006718865.3:c.415A>G, XM_006718865.2:c.415A>G, XM_006718865.1:c.415A>G, XM_011542883.3:c.415A>G, XM_011542883.2:c.415A>G, XM_011542883.1:c.415A>G, XM_011542881.3:c.415A>G, XM_011542881.2:c.415A>G, XM_011542881.1:c.415A>G, XM_011542882.3:c.415A>G, XM_011542882.2:c.415A>G, XM_011542882.1:c.415A>G, NM_001077639.2:c.415A>G, NM_001077639.1:c.415A>G, XM_047427148.1:c.415A>G, XM_047427150.1:c.415A>G, XM_047427152.1:c.415A>G, XM_047427147.1:c.415A>G, XM_047427149.1:c.415A>G, XM_047427151.1:c.415A>G, XP_006718928.1:p.Arg139Gly, XP_011541185.1:p.Arg139Gly, XP_011541183.1:p.Arg139Gly, XP_011541184.1:p.Arg139Gly, NP_001071107.1:p.Arg139Gly, XP_047283104.1:p.Arg139Gly, XP_047283106.1:p.Arg139Gly, XP_047283108.1:p.Arg139Gly, XP_047283103.1:p.Arg139Gly, XP_047283105.1:p.Arg139Gly, XP_047283107.1:p.Arg139Gly

Select item 145753932717.

rs1457539327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:114594718 (GRCh38)
11:114465440 (GRCh37)
Canonical SPDI:: NC_000011.10:114594717:C:T
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.114594718C>T, NC_000011.9:g.114465440C>T, XM_006718865.4:c.42G>A, XM_006718865.3:c.42G>A, XM_006718865.2:c.42G>A, XM_006718865.1:c.42G>A, XM_011542883.3:c.42G>A, XM_011542883.2:c.42G>A, XM_011542883.1:c.42G>A, XM_011542881.3:c.42G>A, XM_011542881.2:c.42G>A, XM_011542881.1:c.42G>A, XM_011542882.3:c.42G>A, XM_011542882.2:c.42G>A, XM_011542882.1:c.42G>A, NM_017678.3:c.-347G>A, NM_017678.2:c.-347G>A, NM_001077639.2:c.42G>A, NM_001077639.1:c.42G>A, XM_047427148.1:c.42G>A, XM_047427150.1:c.42G>A, XM_047427152.1:c.42G>A, XM_047427147.1:c.42G>A, XM_047427149.1:c.42G>A, XM_047427151.1:c.42G>A

Select item 145643538518.

rs1456435385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:114582501 (GRCh38)
11:114453223 (GRCh37)
Canonical SPDI:: NC_000011.10:114582500:C:A
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.114582501C>A, NC_000011.9:g.114453223C>A, XM_006718865.4:c.617G>T, XM_006718865.3:c.617G>T, XM_006718865.2:c.617G>T, XM_006718865.1:c.617G>T, XM_011542883.3:c.617G>T, XM_011542883.2:c.617G>T, XM_011542883.1:c.617G>T, XM_011542881.3:c.617G>T, XM_011542881.2:c.617G>T, XM_011542881.1:c.617G>T, XM_011542882.3:c.617G>T, XM_011542882.2:c.617G>T, XM_011542882.1:c.617G>T, NM_001077639.2:c.617G>T, NM_001077639.1:c.617G>T, XM_047427148.1:c.617G>T, XM_047427150.1:c.617G>T, XM_047427152.1:c.617G>T, XM_047427147.1:c.617G>T, XM_047427149.1:c.617G>T, XM_047427151.1:c.617G>T, XP_006718928.1:p.Gly206Val, XP_011541185.1:p.Gly206Val, XP_011541183.1:p.Gly206Val, XP_011541184.1:p.Gly206Val, NP_001071107.1:p.Gly206Val, XP_047283104.1:p.Gly206Val, XP_047283106.1:p.Gly206Val, XP_047283108.1:p.Gly206Val, XP_047283103.1:p.Gly206Val, XP_047283105.1:p.Gly206Val, XP_047283107.1:p.Gly206Val

Select item 145290651519.

rs1452906515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:114571171 (GRCh38)
11:114441893 (GRCh37)
Canonical SPDI:: NC_000011.10:114571170:T:G
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.114571171T>G, NC_000011.9:g.114441893T>G, XM_011542881.3:c.1402A>C, XM_011542881.2:c.1402A>C, XM_011542881.1:c.1402A>C, XM_011542882.3:c.1195A>C, XM_011542882.2:c.1195A>C, XM_011542882.1:c.1195A>C, NM_017678.3:c.550A>C, NM_017678.2:c.550A>C, NM_001077639.2:c.1402A>C, NM_001077639.1:c.1402A>C, XM_047427148.1:c.1402A>C, XM_047427150.1:c.1402A>C, XM_047427152.1:c.1402A>C, XM_047427147.1:c.1402A>C, XM_047427149.1:c.1402A>C, XM_047427151.1:c.1402A>C, XP_011541183.1:p.Thr468Pro, XP_011541184.1:p.Thr399Pro, NP_060148.2:p.Thr184Pro, NP_001071107.1:p.Thr468Pro, XP_047283104.1:p.Thr468Pro, XP_047283106.1:p.Thr468Pro, XP_047283108.1:p.Thr468Pro, XP_047283103.1:p.Thr468Pro, XP_047283105.1:p.Thr468Pro, XP_047283107.1:p.Thr468Pro

Select item 145237497220.

rs1452374972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:114582587 (GRCh38)
11:114453309 (GRCh37)
Canonical SPDI:: NC_000011.10:114582586:C:G
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.114582587C>G, NC_000011.9:g.114453309C>G, XM_006718865.4:c.531G>C, XM_006718865.3:c.531G>C, XM_006718865.2:c.531G>C, XM_006718865.1:c.531G>C, XM_011542883.3:c.531G>C, XM_011542883.2:c.531G>C, XM_011542883.1:c.531G>C, XM_011542881.3:c.531G>C, XM_011542881.2:c.531G>C, XM_011542881.1:c.531G>C, XM_011542882.3:c.531G>C, XM_011542882.2:c.531G>C, XM_011542882.1:c.531G>C, NM_001077639.2:c.531G>C, NM_001077639.1:c.531G>C, XM_047427148.1:c.531G>C, XM_047427150.1:c.531G>C, XM_047427152.1:c.531G>C, XM_047427147.1:c.531G>C, XM_047427149.1:c.531G>C, XM_047427151.1:c.531G>C

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