SNP Links for Protein (Select 725503311) - SNP

Links from Protein

Items: 1 to 20 of 1007

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Select item 14897600491.

rs1489760049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:9734140 (GRCh38)
1:9794198 (GRCh37)
Canonical SPDI:: NC_000001.11:9734139:G:A
Gene:: CLSTN1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_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_000001.11:g.9734140G>A, NC_000001.10:g.9794198G>A, NM_014944.4:c.2083C>T, NM_014944.3:c.2083C>T, NM_001009566.3:c.2113C>T, NM_001009566.2:c.2113C>T, NM_001009566.1:c.2113C>T, XM_047449470.1:c.2026C>T, NM_001302883.1:c.2056C>T, NP_055759.3:p.Gln695Ter, NP_001009566.1:p.Gln705Ter, XP_047305426.1:p.Gln676Ter, NP_001289812.1:p.Gln686Ter

Select item 14879690732.

rs1487969073 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:9756482 (GRCh38)
1:9816540 (GRCh37)
Canonical SPDI:: NC_000001.11:9756481:TT:
Gene:: CLSTN1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.9756482_9756483del, NC_000001.10:g.9816540_9816541del, NM_001009566.3:c.242_243del, NM_001009566.2:c.242_243del, NM_001009566.1:c.242_243del, NM_001302883.1:c.242_243del, NP_001009566.1:p.Glu81fs, NP_001289812.1:p.Glu81fs

Select item 14874943843.

rs1487494384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:9749849 (GRCh38)
1:9809907 (GRCh37)
Canonical SPDI:: NC_000001.11:9749848:A:G
Gene:: CLSTN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000001.11:g.9749849A>G, NC_000001.10:g.9809907A>G, NM_014944.4:c.684T>C, NM_014944.3:c.684T>C, NM_001009566.3:c.714T>C, NM_001009566.2:c.714T>C, NM_001009566.1:c.714T>C, XM_047449470.1:c.684T>C, NM_001302883.1:c.714T>C

Select item 14873674394.

rs1487367439 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:9736001 (GRCh38)
1:9796059 (GRCh37)
Canonical SPDI:: NC_000001.11:9736000:C:A
Gene:: CLSTN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.9736001C>A, NC_000001.10:g.9796059C>A, NM_014944.4:c.1588G>T, NM_014944.3:c.1588G>T, NM_001009566.3:c.1618G>T, NM_001009566.2:c.1618G>T, NM_001009566.1:c.1618G>T, XM_047449470.1:c.1531G>T, NM_001302883.1:c.1561G>T, NP_055759.3:p.Ala530Ser, NP_001009566.1:p.Ala540Ser, XP_047305426.1:p.Ala511Ser, NP_001289812.1:p.Ala521Ser

Select item 14865607205.

rs1486560720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:9751630 (GRCh38)
1:9811688 (GRCh37)
Canonical SPDI:: NC_000001.11:9751629:G:A
Gene:: CLSTN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.9751630G>A, NC_000001.10:g.9811688G>A, NM_014944.4:c.462C>T, NM_014944.3:c.462C>T, NM_001009566.3:c.492C>T, NM_001009566.2:c.492C>T, NM_001009566.1:c.492C>T, XM_047449470.1:c.462C>T, NM_001302883.1:c.492C>T

Select item 14857206866.

rs1485720686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:9751542 (GRCh38)
1:9811600 (GRCh37)
Canonical SPDI:: NC_000001.11:9751541:G:C
Gene:: CLSTN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.9751542G>C, NC_000001.10:g.9811600G>C, NM_014944.4:c.550C>G, NM_014944.3:c.550C>G, NM_001009566.3:c.580C>G, NM_001009566.2:c.580C>G, NM_001009566.1:c.580C>G, XM_047449470.1:c.550C>G, NM_001302883.1:c.580C>G, NP_055759.3:p.Pro184Ala, NP_001009566.1:p.Pro194Ala, XP_047305426.1:p.Pro184Ala, NP_001289812.1:p.Pro194Ala

Select item 14833115097.

rs1483311509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:9755126 (GRCh38)
1:9815184 (GRCh37)
Canonical SPDI:: NC_000001.11:9755125:T:C
Gene:: CLSTN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.9755126T>C, NC_000001.10:g.9815184T>C, NM_014944.4:c.398A>G, NM_014944.3:c.398A>G, NM_001009566.3:c.428A>G, NM_001009566.2:c.428A>G, NM_001009566.1:c.428A>G, XM_047449470.1:c.398A>G, NM_001302883.1:c.428A>G, NP_055759.3:p.Lys133Arg, NP_001009566.1:p.Lys143Arg, XP_047305426.1:p.Lys133Arg, NP_001289812.1:p.Lys143Arg

Select item 14814030938.

rs1481403093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:9735561 (GRCh38)
1:9795619 (GRCh37)
Canonical SPDI:: NC_000001.11:9735560:C:T
Gene:: CLSTN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.9735561C>T, NC_000001.10:g.9795619C>T, NM_014944.4:c.1759G>A, NM_014944.3:c.1759G>A, NM_001009566.3:c.1789G>A, NM_001009566.2:c.1789G>A, NM_001009566.1:c.1789G>A, XM_047449470.1:c.1702G>A, NM_001302883.1:c.1732G>A, NP_055759.3:p.Glu587Lys, NP_001009566.1:p.Glu597Lys, XP_047305426.1:p.Glu568Lys, NP_001289812.1:p.Glu578Lys

Select item 14808172419.

rs1480817241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:9749566 (GRCh38)
1:9809624 (GRCh37)
Canonical SPDI:: NC_000001.11:9749565:C:T
Gene:: CLSTN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000142/2 (TOMMO)
HGVS:: NC_000001.11:g.9749566C>T, NC_000001.10:g.9809624C>T, NM_014944.4:c.850G>A, NM_014944.3:c.850G>A, NM_001009566.3:c.880G>A, NM_001009566.2:c.880G>A, NM_001009566.1:c.880G>A, XM_047449470.1:c.850G>A, NM_001302883.1:c.880G>A, NP_055759.3:p.Glu284Lys, NP_001009566.1:p.Glu294Lys, XP_047305426.1:p.Glu284Lys, NP_001289812.1:p.Glu294Lys

Select item 148072644810.

rs1480726448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:9733470 (GRCh38)
1:9793528 (GRCh37)
Canonical SPDI:: NC_000001.11:9733469:A:G
Gene:: CLSTN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.9733470A>G, NC_000001.10:g.9793528A>G, NM_014944.4:c.2328T>C, NM_014944.3:c.2328T>C, NM_001009566.3:c.2358T>C, NM_001009566.2:c.2358T>C, NM_001009566.1:c.2358T>C, XM_047449470.1:c.2271T>C, NM_001302883.1:c.2301T>C

Select item 147821793511.

rs1478217935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:9735999 (GRCh38)
1:9796057 (GRCh37)
Canonical SPDI:: NC_000001.11:9735998:A:G
Gene:: CLSTN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.9735999A>G, NC_000001.10:g.9796057A>G, NM_014944.4:c.1590T>C, NM_014944.3:c.1590T>C, NM_001009566.3:c.1620T>C, NM_001009566.2:c.1620T>C, NM_001009566.1:c.1620T>C, XM_047449470.1:c.1533T>C, NM_001302883.1:c.1563T>C

Select item 147790225212.

rs1477902252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:9736013 (GRCh38)
1:9796071 (GRCh37)
Canonical SPDI:: NC_000001.11:9736012:G:A
Gene:: CLSTN1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.9736013G>A, NC_000001.10:g.9796071G>A, NM_014944.4:c.1576C>T, NM_014944.3:c.1576C>T, NM_001009566.3:c.1606C>T, NM_001009566.2:c.1606C>T, NM_001009566.1:c.1606C>T, XM_047449470.1:c.1519C>T, NM_001302883.1:c.1549C>T, NP_055759.3:p.Arg526Ter, NP_001009566.1:p.Arg536Ter, XP_047305426.1:p.Arg507Ter, NP_001289812.1:p.Arg517Ter

Select item 147654472613.

rs1476544726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:9735059 (GRCh38)
1:9795117 (GRCh37)
Canonical SPDI:: NC_000001.11:9735058:C:A
Gene:: CLSTN1 (Varview)
Functional Consequence:: 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_000001.11:g.9735059C>A, NC_000001.10:g.9795117C>A, NM_014944.4:c.1969G>T, NM_014944.3:c.1969G>T, NM_001009566.3:c.1999G>T, NM_001009566.2:c.1999G>T, NM_001009566.1:c.1999G>T, XM_047449470.1:c.1912G>T, NM_001302883.1:c.1942G>T, NP_055759.3:p.Ala657Ser, NP_001009566.1:p.Ala667Ser, XP_047305426.1:p.Ala638Ser, NP_001289812.1:p.Ala648Ser

Select item 147547041514.

rs1475470415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:9735490 (GRCh38)
1:9795548 (GRCh37)
Canonical SPDI:: NC_000001.11:9735489:T:C
Gene:: CLSTN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.9735490T>C, NC_000001.10:g.9795548T>C, NM_014944.4:c.1830A>G, NM_014944.3:c.1830A>G, NM_001009566.3:c.1860A>G, NM_001009566.2:c.1860A>G, NM_001009566.1:c.1860A>G, XM_047449470.1:c.1773A>G, NM_001302883.1:c.1803A>G

Select item 147546283515.

rs1475462835 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:9743999 (GRCh38)
1:9804057 (GRCh37)
Canonical SPDI:: NC_000001.11:9743998:T:G
Gene:: CLSTN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0004/2 (ALFA)
G=0.0004/2 (Estonian)
HGVS:: NC_000001.11:g.9743999T>G, NC_000001.10:g.9804057T>G, NM_014944.4:c.1211A>C, NM_014944.3:c.1211A>C, NM_001009566.3:c.1241A>C, NM_001009566.2:c.1241A>C, NM_001009566.1:c.1241A>C, XM_047449470.1:c.1211A>C, NM_001302883.1:c.1241A>C, NP_055759.3:p.Asn404Thr, NP_001009566.1:p.Asn414Thr, XP_047305426.1:p.Asn404Thr, NP_001289812.1:p.Asn414Thr

Select item 147432616716.

rs1474326167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:9735012 (GRCh38)
1:9795070 (GRCh37)
Canonical SPDI:: NC_000001.11:9735011:A:G
Gene:: CLSTN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.9735012A>G, NC_000001.10:g.9795070A>G, NM_014944.4:c.2016T>C, NM_014944.3:c.2016T>C, NM_001009566.3:c.2046T>C, NM_001009566.2:c.2046T>C, NM_001009566.1:c.2046T>C, XM_047449470.1:c.1959T>C, NM_001302883.1:c.1989T>C

Select item 147426332917.

rs1474263329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:9755138 (GRCh38)
1:9815196 (GRCh37)
Canonical SPDI:: NC_000001.11:9755137:C:A
Gene:: CLSTN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.9755138C>A, NC_000001.10:g.9815196C>A, NM_014944.4:c.386G>T, NM_014944.3:c.386G>T, NM_001009566.3:c.416G>T, NM_001009566.2:c.416G>T, NM_001009566.1:c.416G>T, XM_047449470.1:c.386G>T, NM_001302883.1:c.416G>T, NP_055759.3:p.Gly129Val, NP_001009566.1:p.Gly139Val, XP_047305426.1:p.Gly129Val, NP_001289812.1:p.Gly139Val

Select item 147404564918.

rs1474045649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:9730677 (GRCh38)
1:9790735 (GRCh37)
Canonical SPDI:: NC_000001.11:9730676:T:C
Gene:: CLSTN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.9730677T>C, NC_000001.10:g.9790735T>C, NG_023434.1:g.83946T>C, NM_014944.4:c.2747A>G, NM_014944.3:c.2747A>G, NM_001009566.3:c.2777A>G, NM_001009566.2:c.2777A>G, NM_001009566.1:c.2777A>G, XM_047449470.1:c.2690A>G, NM_001302883.1:c.2720A>G, NP_055759.3:p.Glu916Gly, NP_001009566.1:p.Glu926Gly, XP_047305426.1:p.Glu897Gly, NP_001289812.1:p.Glu907Gly

Select item 147061125619.

rs1470611256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:9755282 (GRCh38)
1:9815340 (GRCh37)
Canonical SPDI:: NC_000001.11:9755281:C:T
Gene:: CLSTN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000001.11:g.9755282C>T, NC_000001.10:g.9815340C>T, NM_014944.4:c.242G>A, NM_014944.3:c.242G>A, NM_001009566.3:c.272G>A, NM_001009566.2:c.272G>A, NM_001009566.1:c.272G>A, XM_047449470.1:c.242G>A, NM_001302883.1:c.272G>A, NP_055759.3:p.Gly81Glu, NP_001009566.1:p.Gly91Glu, XP_047305426.1:p.Gly81Glu, NP_001289812.1:p.Gly91Glu

Select item 147011384520.

rs1470113845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:9749846 (GRCh38)
1:9809904 (GRCh37)
Canonical SPDI:: NC_000001.11:9749845:G:A
Gene:: CLSTN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.9749846G>A, NC_000001.10:g.9809904G>A, NM_014944.4:c.687C>T, NM_014944.3:c.687C>T, NM_001009566.3:c.717C>T, NM_001009566.2:c.717C>T, NM_001009566.1:c.717C>T, XM_047449470.1:c.687C>T, NM_001302883.1:c.717C>T

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