SNP Links for Protein (Select 7657546) - SNP

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Links from Protein

Items: 1 to 20 of 49

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Select item 14775144251.

rs1477514425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:54755814 (GRCh38)
7:54823507 (GRCh37)
Canonical SPDI:: NC_000007.14:54755813:C:T
Gene:: SEC61G (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.54755814C>T, NC_000007.13:g.54823507C>T, NM_014302.4:c.162G>A, NM_014302.3:c.162G>A, NM_001012456.2:c.162G>A, NM_001012456.1:c.162G>A

Select item 14318465802.

rs1431846580 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:54755872 (GRCh38)
7:54823565 (GRCh37)
Canonical SPDI:: NC_000007.14:54755871:T:C
Gene:: SEC61G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.54755872T>C, NC_000007.13:g.54823565T>C, NM_014302.4:c.104A>G, NM_014302.3:c.104A>G, NM_001012456.2:c.104A>G, NM_001012456.1:c.104A>G, NP_055117.1:p.Lys35Arg, NP_001012474.1:p.Lys35Arg

Select item 14253295243.

rs1425329524 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:54757556 (GRCh38)
7:54825249 (GRCh37)
Canonical SPDI:: NC_000007.14:54757555:A:G
Gene:: SEC61G (Varview), SEC61G-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.54757556A>G, NC_000007.13:g.54825249A>G, NM_014302.4:c.33T>C, NM_014302.3:c.33T>C, NM_001012456.2:c.33T>C, NM_001012456.1:c.33T>C

Select item 14208424424.

rs1420842442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:54755874 (GRCh38)
7:54823567 (GRCh37)
Canonical SPDI:: NC_000007.14:54755873:C:T
Gene:: SEC61G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.54755874C>T, NC_000007.13:g.54823567C>T, NM_014302.4:c.102G>A, NM_014302.3:c.102G>A, NM_001012456.2:c.102G>A, NM_001012456.1:c.102G>A

Select item 14072507085.

rs1407250708 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:54755859 (GRCh38)
7:54823552 (GRCh37)
Canonical SPDI:: NC_000007.14:54755858:T:C,NC_000007.14:54755858:T:G
Gene:: SEC61G (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_000007.14:g.54755859T>C, NC_000007.14:g.54755859T>G, NC_000007.13:g.54823552T>C, NC_000007.13:g.54823552T>G, NM_014302.4:c.117A>G, NM_014302.4:c.117A>C, NM_014302.3:c.117A>G, NM_014302.3:c.117A>C, NM_001012456.2:c.117A>G, NM_001012456.2:c.117A>C, NM_001012456.1:c.117A>G, NM_001012456.1:c.117A>C

Select item 13910717306.

rs1391071730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:54755853 (GRCh38)
7:54823546 (GRCh37)
Canonical SPDI:: NC_000007.14:54755852:T:C,NC_000007.14:54755852:T:G
Gene:: SEC61G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.54755853T>C, NC_000007.14:g.54755853T>G, NC_000007.13:g.54823546T>C, NC_000007.13:g.54823546T>G, NM_014302.4:c.123A>G, NM_014302.4:c.123A>C, NM_014302.3:c.123A>G, NM_014302.3:c.123A>C, NM_001012456.2:c.123A>G, NM_001012456.2:c.123A>C, NM_001012456.1:c.123A>G, NM_001012456.1:c.123A>C

Select item 13862688277.

rs1386268827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:54755784 (GRCh38)
7:54823477 (GRCh37)
Canonical SPDI:: NC_000007.14:54755783:G:A
Gene:: SEC61G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.54755784G>A, NC_000007.13:g.54823477G>A, NM_014302.4:c.192C>T, NM_014302.3:c.192C>T, NM_001012456.2:c.192C>T, NM_001012456.1:c.192C>T

Select item 13711006058.

rs1371100605 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:54755781 (GRCh38)
7:54823474 (GRCh37)
Canonical SPDI:: NC_000007.14:54755780:A:G
Gene:: SEC61G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.54755781A>G, NC_000007.13:g.54823474A>G, NM_014302.4:c.195T>C, NM_014302.3:c.195T>C, NM_001012456.2:c.195T>C, NM_001012456.1:c.195T>C

Select item 13602226559.

rs1360222655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:54755866 (GRCh38)
7:54823559 (GRCh37)
Canonical SPDI:: NC_000007.14:54755865:G:T
Gene:: SEC61G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.54755866G>T, NC_000007.13:g.54823559G>T, NM_014302.4:c.110C>A, NM_014302.3:c.110C>A, NM_001012456.2:c.110C>A, NM_001012456.1:c.110C>A, NP_055117.1:p.Ala37Asp, NP_001012474.1:p.Ala37Asp

Select item 134050989310.

rs1340509893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:54755863 (GRCh38)
7:54823556 (GRCh37)
Canonical SPDI:: NC_000007.14:54755862:A:G
Gene:: SEC61G (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_000007.14:g.54755863A>G, NC_000007.13:g.54823556A>G, NM_014302.4:c.113T>C, NM_014302.3:c.113T>C, NM_001012456.2:c.113T>C, NM_001012456.1:c.113T>C, NP_055117.1:p.Met38Thr, NP_001012474.1:p.Met38Thr

Select item 132908231111.

rs1329082311 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:54757581 (GRCh38)
7:54825274 (GRCh37)
Canonical SPDI:: NC_000007.14:54757580:T:C
Gene:: SEC61G (Varview), SEC61G-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000007.14:g.54757581T>C, NC_000007.13:g.54825274T>C, NM_014302.4:c.8A>G, NM_014302.3:c.8A>G, NM_001012456.2:c.8A>G, NM_001012456.1:c.8A>G, NP_055117.1:p.Gln3Arg, NP_001012474.1:p.Gln3Arg

Select item 132215625612.

rs1322156256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:54755787 (GRCh38)
7:54823480 (GRCh37)
Canonical SPDI:: NC_000007.14:54755786:G:A
Gene:: SEC61G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000342/1 (KOREAN)
A=0.000495/8 (TOMMO)
HGVS:: NC_000007.14:g.54755787G>A, NC_000007.13:g.54823480G>A, NM_014302.4:c.189C>T, NM_014302.3:c.189C>T, NM_001012456.2:c.189C>T, NM_001012456.1:c.189C>T

Select item 124461630913.

rs1244616309 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:54755818 (GRCh38)
7:54823511 (GRCh37)
Canonical SPDI:: NC_000007.14:54755817:A:G
Gene:: SEC61G (Varview)
Functional Consequence:: missense_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_000007.14:g.54755818A>G, NC_000007.13:g.54823511A>G, NM_014302.4:c.158T>C, NM_014302.3:c.158T>C, NM_001012456.2:c.158T>C, NM_001012456.1:c.158T>C, NP_055117.1:p.Phe53Ser, NP_001012474.1:p.Phe53Ser

Select item 123776816714.

rs1237768167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:54757530 (GRCh38)
7:54825223 (GRCh37)
Canonical SPDI:: NC_000007.14:54757529:C:A
Gene:: SEC61G (Varview), SEC61G-DT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.54757530C>A, NC_000007.13:g.54825223C>A, NM_014302.4:c.59G>T, NM_014302.3:c.59G>T, NM_001012456.2:c.59G>T, NM_001012456.1:c.59G>T, NP_055117.1:p.Arg20Leu, NP_001012474.1:p.Arg20Leu

Select item 122345869315.

rs1223458693 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:54755801 (GRCh38)
7:54823494 (GRCh37)
Canonical SPDI:: NC_000007.14:54755800:T:G
Gene:: SEC61G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.54755801T>G, NC_000007.13:g.54823494T>G, NM_014302.4:c.175A>C, NM_014302.3:c.175A>C, NM_001012456.2:c.175A>C, NM_001012456.1:c.175A>C, NP_055117.1:p.Ile59Leu, NP_001012474.1:p.Ile59Leu

Select item 122186972716.

rs1221869727 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:54757535 (GRCh38)
7:54825229 (GRCh37)
Canonical SPDI:: NC_000007.14:54757535::T
Gene:: SEC61G (Varview), SEC61G-DT (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,frameshift_variant
HGVS:: NC_000007.14:g.54757535_54757536insT, NC_000007.13:g.54825228_54825229insT, NM_014302.4:c.53_54insA, NM_014302.3:c.53_54insA, NM_001012456.2:c.53_54insA, NM_001012456.1:c.53_54insA, NP_055117.1:p.Ile19fs, NP_001012474.1:p.Ile19fs

Select item 121430485517.

rs1214304855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:54752416 (GRCh38)
7:54820109 (GRCh37)
Canonical SPDI:: NC_000007.14:54752415:C:T
Gene:: SEC61G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.54752416C>T, NC_000007.13:g.54820109C>T, NM_014302.4:c.202G>A, NM_014302.3:c.202G>A, NM_001012456.2:c.202G>A, NM_001012456.1:c.202G>A, NP_055117.1:p.Gly68Ser, NP_001012474.1:p.Gly68Ser

Select item 120439708318.

rs1204397083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:54757574 (GRCh38)
7:54825267 (GRCh37)
Canonical SPDI:: NC_000007.14:54757573:C:A
Gene:: SEC61G (Varview), SEC61G-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_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_000007.14:g.54757574C>A, NC_000007.13:g.54825267C>A, NM_014302.4:c.15G>T, NM_014302.3:c.15G>T, NM_001012456.2:c.15G>T, NM_001012456.1:c.15G>T, NP_055117.1:p.Met5Ile, NP_001012474.1:p.Met5Ile

Select item 119974333419.

rs1199743334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:54757497 (GRCh38)
7:54825190 (GRCh37)
Canonical SPDI:: NC_000007.14:54757496:T:C
Gene:: SEC61G (Varview), SEC61G-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.54757497T>C, NC_000007.13:g.54825190T>C, NM_014302.4:c.92A>G, NM_014302.3:c.92A>G, NM_001012456.2:c.92A>G, NM_001012456.1:c.92A>G, NP_055117.1:p.Lys31Arg, NP_001012474.1:p.Lys31Arg

Select item 118092372920.

rs1180923729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:54757540 (GRCh38)
7:54825233 (GRCh37)
Canonical SPDI:: NC_000007.14:54757539:C:A,NC_000007.14:54757539:C:G
Gene:: SEC61G (Varview), SEC61G-DT (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.54757540C>A, NC_000007.14:g.54757540C>G, NC_000007.13:g.54825233C>A, NC_000007.13:g.54825233C>G, NM_014302.4:c.49G>T, NM_014302.4:c.49G>C, NM_014302.3:c.49G>T, NM_014302.3:c.49G>C, NM_001012456.2:c.49G>T, NM_001012456.2:c.49G>C, NM_001012456.1:c.49G>T, NM_001012456.1:c.49G>C, NP_055117.1:p.Asp17Tyr, NP_055117.1:p.Asp17His, NP_001012474.1:p.Asp17Tyr, NP_001012474.1:p.Asp17His

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