SNP Links for Protein (Select 578806617) - SNP

Links from Protein

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Select item 14903447141.

rs1490344714 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49910135 (GRCh38)
3:49947568 (GRCh37)
Canonical SPDI:: NC_000003.12:49910134:A:G
Gene:: MON1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49910135A>G, NC_000003.11:g.49947568A>G, XM_006713345.5:c.1363T>C, XM_006713345.4:c.1363T>C, XM_006713345.3:c.1363T>C, XM_006713345.2:c.1363T>C, XM_006713345.1:c.1363T>C, NM_032355.4:c.1363T>C, NM_032355.3:c.1654T>C, XM_011534160.2:c.1363T>C, XM_011534160.1:c.1363T>C, NM_001142501.2:c.877T>C, NM_001142501.1:c.1168T>C, XP_006713408.1:p.Ser455Pro, NP_115731.3:p.Ser455Pro, XP_011532462.1:p.Ser455Pro, NP_001135973.2:p.Ser293Pro

Select item 14900357612.

rs1490035761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:49910340 (GRCh38)
3:49947773 (GRCh37)
Canonical SPDI:: NC_000003.12:49910339:C:A
Gene:: MON1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49910340C>A, NC_000003.11:g.49947773C>A, XM_006713345.5:c.1158G>T, XM_006713345.4:c.1158G>T, XM_006713345.3:c.1158G>T, XM_006713345.2:c.1158G>T, XM_006713345.1:c.1158G>T, NM_032355.4:c.1158G>T, NM_032355.3:c.1449G>T, XM_011534160.2:c.1158G>T, XM_011534160.1:c.1158G>T, NM_001142501.2:c.672G>T, NM_001142501.1:c.963G>T, XP_006713408.1:p.Glu386Asp, NP_115731.3:p.Glu386Asp, XP_011532462.1:p.Glu386Asp, NP_001135973.2:p.Glu224Asp

Select item 14898807503.

rs1489880750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49910658 (GRCh38)
3:49948091 (GRCh37)
Canonical SPDI:: NC_000003.12:49910657:C:T
Gene:: MON1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.49910658C>T, NC_000003.11:g.49948091C>T, XM_006713345.5:c.840G>A, XM_006713345.4:c.840G>A, XM_006713345.3:c.840G>A, XM_006713345.2:c.840G>A, XM_006713345.1:c.840G>A, NM_032355.4:c.840G>A, NM_032355.3:c.1131G>A, XM_011534160.2:c.840G>A, XM_011534160.1:c.840G>A, NM_001142501.2:c.354G>A, NM_001142501.1:c.645G>A

Select item 14889718904.

rs1488971890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49911985 (GRCh38)
3:49949418 (GRCh37)
Canonical SPDI:: NC_000003.12:49911984:C:T
Gene:: MON1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49911985C>T, NC_000003.11:g.49949418C>T, XM_006713345.5:c.154G>A, XM_006713345.4:c.154G>A, XM_006713345.3:c.154G>A, XM_006713345.2:c.154G>A, XM_006713345.1:c.154G>A, NM_032355.4:c.154G>A, NM_032355.3:c.445G>A, XM_011534160.2:c.154G>A, XM_011534160.1:c.154G>A, XP_006713408.1:p.Val52Ile, NP_115731.3:p.Val52Ile, XP_011532462.1:p.Val52Ile

Select item 14886066105.

rs1488606610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:49910649 (GRCh38)
3:49948082 (GRCh37)
Canonical SPDI:: NC_000003.12:49910648:T:C,NC_000003.12:49910648:T:G
Gene:: MON1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49910649T>C, NC_000003.12:g.49910649T>G, NC_000003.11:g.49948082T>C, NC_000003.11:g.49948082T>G, XM_006713345.5:c.849A>G, XM_006713345.5:c.849A>C, XM_006713345.4:c.849A>G, XM_006713345.4:c.849A>C, XM_006713345.3:c.849A>G, XM_006713345.3:c.849A>C, XM_006713345.2:c.849A>G, XM_006713345.2:c.849A>C, XM_006713345.1:c.849A>G, XM_006713345.1:c.849A>C, NM_032355.4:c.849A>G, NM_032355.4:c.849A>C, NM_032355.3:c.1140A>G, NM_032355.3:c.1140A>C, XM_011534160.2:c.849A>G, XM_011534160.2:c.849A>C, XM_011534160.1:c.849A>G, XM_011534160.1:c.849A>C, NM_001142501.2:c.363A>G, NM_001142501.2:c.363A>C, NM_001142501.1:c.654A>G, NM_001142501.1:c.654A>C

Select item 14885247816.

rs1488524781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49910156 (GRCh38)
3:49947589 (GRCh37)
Canonical SPDI:: NC_000003.12:49910155:A:G
Gene:: MON1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.49910156A>G, NC_000003.11:g.49947589A>G, XM_006713345.5:c.1342T>C, XM_006713345.4:c.1342T>C, XM_006713345.3:c.1342T>C, XM_006713345.2:c.1342T>C, XM_006713345.1:c.1342T>C, NM_032355.4:c.1342T>C, NM_032355.3:c.1633T>C, XM_011534160.2:c.1342T>C, XM_011534160.1:c.1342T>C, NM_001142501.2:c.856T>C, NM_001142501.1:c.1147T>C, XP_006713408.1:p.Phe448Leu, NP_115731.3:p.Phe448Leu, XP_011532462.1:p.Phe448Leu, NP_001135973.2:p.Phe286Leu

Select item 14859889837.

rs1485988983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49910554 (GRCh38)
3:49947987 (GRCh37)
Canonical SPDI:: NC_000003.12:49910553:G:A
Gene:: MON1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49910554G>A, NC_000003.11:g.49947987G>A, XM_006713345.5:c.944C>T, XM_006713345.4:c.944C>T, XM_006713345.3:c.944C>T, XM_006713345.2:c.944C>T, XM_006713345.1:c.944C>T, NM_032355.4:c.944C>T, NM_032355.3:c.1235C>T, XM_011534160.2:c.944C>T, XM_011534160.1:c.944C>T, NM_001142501.2:c.458C>T, NM_001142501.1:c.749C>T, XP_006713408.1:p.Ala315Val, NP_115731.3:p.Ala315Val, XP_011532462.1:p.Ala315Val, NP_001135973.2:p.Ala153Val

Select item 14846108728.

rs1484610872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:49909351 (GRCh38)
3:49946784 (GRCh37)
Canonical SPDI:: NC_000003.12:49909350:G:C
Gene:: MON1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49909351G>C, NC_000003.11:g.49946784G>C, XM_006713345.5:c.1429C>G, XM_006713345.4:c.1429C>G, XM_006713345.3:c.1429C>G, XM_006713345.2:c.1429C>G, XM_006713345.1:c.1429C>G, NM_032355.4:c.1429C>G, NM_032355.3:c.1720C>G, XM_011534160.2:c.1429C>G, XM_011534160.1:c.1429C>G, NM_001142501.2:c.943C>G, NM_001142501.1:c.1234C>G, XP_006713408.1:p.Leu477Val, NP_115731.3:p.Leu477Val, XP_011532462.1:p.Leu477Val, NP_001135973.2:p.Leu315Val

Select item 14807324749.

rs1480732474 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:49909316 (GRCh38)
3:49946749 (GRCh37)
Canonical SPDI:: NC_000003.12:49909315:G:C
Gene:: MON1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49909316G>C, NC_000003.11:g.49946749G>C, XM_006713345.5:c.1464C>G, XM_006713345.4:c.1464C>G, XM_006713345.3:c.1464C>G, XM_006713345.2:c.1464C>G, XM_006713345.1:c.1464C>G, NM_032355.4:c.1464C>G, NM_032355.3:c.1755C>G, XM_011534160.2:c.1464C>G, XM_011534160.1:c.1464C>G, NM_001142501.2:c.978C>G, NM_001142501.1:c.1269C>G, XP_006713408.1:p.His488Gln, NP_115731.3:p.His488Gln, XP_011532462.1:p.His488Gln, NP_001135973.2:p.His326Gln

Select item 148031217610.

rs1480312176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49910222 (GRCh38)
3:49947655 (GRCh37)
Canonical SPDI:: NC_000003.12:49910221:G:A
Gene:: MON1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.49910222G>A, NC_000003.11:g.49947655G>A, XM_006713345.5:c.1276C>T, XM_006713345.4:c.1276C>T, XM_006713345.3:c.1276C>T, XM_006713345.2:c.1276C>T, XM_006713345.1:c.1276C>T, NM_032355.4:c.1276C>T, NM_032355.3:c.1567C>T, XM_011534160.2:c.1276C>T, XM_011534160.1:c.1276C>T, NM_001142501.2:c.790C>T, NM_001142501.1:c.1081C>T

Select item 147703736111.

rs1477037361 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49911601 (GRCh38)
3:49949034 (GRCh37)
Canonical SPDI:: NC_000003.12:49911600:T:C
Gene:: MON1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49911601T>C, NC_000003.11:g.49949034T>C, XM_006713345.5:c.538A>G, XM_006713345.4:c.538A>G, XM_006713345.3:c.538A>G, XM_006713345.2:c.538A>G, XM_006713345.1:c.538A>G, NM_032355.4:c.538A>G, NM_032355.3:c.829A>G, XM_011534160.2:c.538A>G, XM_011534160.1:c.538A>G, XP_006713408.1:p.Ser180Gly, NP_115731.3:p.Ser180Gly, XP_011532462.1:p.Ser180Gly

Select item 147577745912.

rs1475777459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:49910245 (GRCh38)
3:49947678 (GRCh37)
Canonical SPDI:: NC_000003.12:49910244:C:G
Gene:: MON1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49910245C>G, NC_000003.11:g.49947678C>G, XM_006713345.5:c.1253G>C, XM_006713345.4:c.1253G>C, XM_006713345.3:c.1253G>C, XM_006713345.2:c.1253G>C, XM_006713345.1:c.1253G>C, NM_032355.4:c.1253G>C, NM_032355.3:c.1544G>C, XM_011534160.2:c.1253G>C, XM_011534160.1:c.1253G>C, NM_001142501.2:c.767G>C, NM_001142501.1:c.1058G>C, XP_006713408.1:p.Arg418Pro, NP_115731.3:p.Arg418Pro, XP_011532462.1:p.Arg418Pro, NP_001135973.2:p.Arg256Pro

Select item 147530369113.

rs1475303691 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:49910573 (GRCh38)
3:49948006 (GRCh37)
Canonical SPDI:: NC_000003.12:49910572:T:G
Gene:: MON1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49910573T>G, NC_000003.11:g.49948006T>G, XM_006713345.5:c.925A>C, XM_006713345.4:c.925A>C, XM_006713345.3:c.925A>C, XM_006713345.2:c.925A>C, XM_006713345.1:c.925A>C, NM_032355.4:c.925A>C, NM_032355.3:c.1216A>C, XM_011534160.2:c.925A>C, XM_011534160.1:c.925A>C, NM_001142501.2:c.439A>C, NM_001142501.1:c.730A>C, XP_006713408.1:p.Ser309Arg, NP_115731.3:p.Ser309Arg, XP_011532462.1:p.Ser309Arg, NP_001135973.2:p.Ser147Arg

Select item 147409475714.

rs1474094757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49911914 (GRCh38)
3:49949347 (GRCh37)
Canonical SPDI:: NC_000003.12:49911913:C:T
Gene:: MON1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_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_000003.12:g.49911914C>T, NC_000003.11:g.49949347C>T, XM_006713345.5:c.225G>A, XM_006713345.4:c.225G>A, XM_006713345.3:c.225G>A, XM_006713345.2:c.225G>A, XM_006713345.1:c.225G>A, NM_032355.4:c.225G>A, NM_032355.3:c.516G>A, XM_011534160.2:c.225G>A, XM_011534160.1:c.225G>A

Select item 147177384015.

rs1471773840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:49911999 (GRCh38)
3:49949432 (GRCh37)
Canonical SPDI:: NC_000003.12:49911998:T:A
Gene:: MON1A (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49911999T>A, NC_000003.11:g.49949432T>A, XM_006713345.5:c.140A>T, XM_006713345.4:c.140A>T, XM_006713345.3:c.140A>T, XM_006713345.2:c.140A>T, XM_006713345.1:c.140A>T, NM_032355.4:c.140A>T, NM_032355.3:c.431A>T, XM_011534160.2:c.140A>T, XM_011534160.1:c.140A>T, XP_006713408.1:p.Glu47Val, NP_115731.3:p.Glu47Val, XP_011532462.1:p.Glu47Val

Select item 147166255016.

rs1471662550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49910769 (GRCh38)
3:49948202 (GRCh37)
Canonical SPDI:: NC_000003.12:49910768:G:A
Gene:: MON1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.49910769G>A, NC_000003.11:g.49948202G>A, XM_006713345.5:c.729C>T, XM_006713345.4:c.729C>T, XM_006713345.3:c.729C>T, XM_006713345.2:c.729C>T, XM_006713345.1:c.729C>T, NM_032355.4:c.729C>T, NM_032355.3:c.1020C>T, XM_011534160.2:c.729C>T, XM_011534160.1:c.729C>T, NM_001142501.2:c.243C>T, NM_001142501.1:c.534C>T

Select item 146943462417.

rs1469434624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49910334 (GRCh38)
3:49947767 (GRCh37)
Canonical SPDI:: NC_000003.12:49910333:G:A
Gene:: MON1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49910334G>A, NC_000003.11:g.49947767G>A, XM_006713345.5:c.1164C>T, XM_006713345.4:c.1164C>T, XM_006713345.3:c.1164C>T, XM_006713345.2:c.1164C>T, XM_006713345.1:c.1164C>T, NM_032355.4:c.1164C>T, NM_032355.3:c.1455C>T, XM_011534160.2:c.1164C>T, XM_011534160.1:c.1164C>T, NM_001142501.2:c.678C>T, NM_001142501.1:c.969C>T

Select item 146921624618.

rs1469216246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49910673 (GRCh38)
3:49948106 (GRCh37)
Canonical SPDI:: NC_000003.12:49910672:G:A
Gene:: MON1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49910673G>A, NC_000003.11:g.49948106G>A, XM_006713345.5:c.825C>T, XM_006713345.4:c.825C>T, XM_006713345.3:c.825C>T, XM_006713345.2:c.825C>T, XM_006713345.1:c.825C>T, NM_032355.4:c.825C>T, NM_032355.3:c.1116C>T, XM_011534160.2:c.825C>T, XM_011534160.1:c.825C>T, NM_001142501.2:c.339C>T, NM_001142501.1:c.630C>T

Select item 146869969019.

rs1468699690 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:49913250 (GRCh38)
3:49950683 (GRCh37)
Canonical SPDI:: NC_000003.12:49913249:T:
Gene:: MON1A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.49913250del, NC_000003.11:g.49950683del, XM_006713345.5:c.97del, XM_006713345.4:c.97del, XM_006713345.3:c.97del, XM_006713345.2:c.97del, XM_006713345.1:c.97del, NM_032355.4:c.97del, NM_032355.3:c.388del, XM_011534160.2:c.97del, XM_011534160.1:c.97del, NM_001142501.2:c.97del, NM_001142501.1:c.388del, XP_006713408.1:p.Thr33fs, NP_115731.3:p.Thr33fs, XP_011532462.1:p.Thr33fs, NP_001135973.2:p.Thr33fs

Select item 146733877620.

rs1467338776 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:49910194 (GRCh38)
3:49947627 (GRCh37)
Canonical SPDI:: NC_000003.12:49910193:T:A
Gene:: MON1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49910194T>A, NC_000003.11:g.49947627T>A, XM_006713345.5:c.1304A>T, XM_006713345.4:c.1304A>T, XM_006713345.3:c.1304A>T, XM_006713345.2:c.1304A>T, XM_006713345.1:c.1304A>T, NM_032355.4:c.1304A>T, NM_032355.3:c.1595A>T, XM_011534160.2:c.1304A>T, XM_011534160.1:c.1304A>T, NM_001142501.2:c.818A>T, NM_001142501.1:c.1109A>T, XP_006713408.1:p.Tyr435Phe, NP_115731.3:p.Tyr435Phe, XP_011532462.1:p.Tyr435Phe, NP_001135973.2:p.Tyr273Phe

dbSNP

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