Canonical Allele Identifier: CA5830633

Gene: STIM1

Linked Data

• ClinVar Variation Id: 864286
• ClinVar RCV Id: RCV001071434 ; RCV003243470
• dbSNP Id: rs749622475
• ExAC: 11:4112778 C / T
• gnomAD v2: 11-4112778-C-T
• gnomAD v3: 11-4091548-C-T
• gnomAD v4: 11-4091548-C-T
• MyVariant Identifiers: chr11:g.4112778C>T (hg19) ; chr11:g.4091548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091548C>T , CM000673.2:g.4091548C>T	GRCh38
NC_000011.9:g.4112778C>T , CM000673.1:g.4112778C>T	GRCh37
NC_000011.8:g.4069354C>T	NCBI36
NG_016277.1:g.240846C>T , LRG_164:g.240846C>T
NG_027992.2:g.1855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*222C>T	ENSP00000432210.2:n.*222C>T
ENST00000698910.1:c.1319C>T	ENSP00000514024.1:p.Ala440Val
ENST00000698911.1:c.1904C>T	ENSP00000514025.1:p.Ala635Val
ENST00000698912.1:c.*222C>T	ENSP00000514026.1:n.*222C>T
ENST00000698913.1:c.1586C>T	ENSP00000514027.1:p.Ala529Val
ENST00000698915.1:c.1892C>T	ENSP00000514029.1:p.Ala631Val
ENST00000698916.1:c.1829C>T	ENSP00000514030.1:p.Ala610Val
ENST00000698918.1:c.*1546C>T	ENSP00000514031.1:n.*1546C>T
ENST00000698919.1:c.*741C>T	ENSP00000514032.1:n.*741C>T
ENST00000698920.1:n.1108C>T
ENST00000526596.2:c.1901C>T MANE Select	ENSP00000433266.2:p.Ala634Val
ENST00000300737.8:c.1808C>T	ENSP00000300737.4:p.Ala603Val
ENST00000526156.1:n.606C>T
ENST00000526596.1:c.1093C>T
ENST00000527651.5:c.*222C>T	ENSP00000436208.1:n.*222C>T
ENST00000533977.5:c.1289C>T	ENSP00000434767.1:p.Ala430Val
ENST00000616714.4:c.2126C>T	ENSP00000478059.1:p.Ala709Val
NM_001277961.1:c.2126C>T	NP_001264890.1:p.Ala709Val
NM_001277962.1:c.*222C>T	NP_001264891.1:n.*222C>T
NM_003156.3:c.1808C>T , LRG_164t1:c.1808C>T	NP_003147.2:p.Ala603Val
NM_001277962.2:c.*222C>T	NP_001264891.1:n.*222C>T
NM_001277961.3:c.2126C>T	NP_001264890.1:p.Ala709Val
NM_001382566.1:c.1904C>T	NP_001369495.1:p.Ala635Val
NM_001382567.1:c.1901C>T MANE Select	NP_001369496.1:p.Ala634Val
NM_001382568.1:c.1829C>T	NP_001369497.1:p.Ala610Val
NM_001382569.1:c.1673C>T	NP_001369498.1:p.Ala558Val
NM_001382570.1:c.1580C>T	NP_001369499.1:p.Ala527Val
NM_001382571.1:c.1328C>T	NP_001369500.1:p.Ala443Val
NM_001382575.1:c.1586C>T	NP_001369504.1:p.Ala529Val
NM_001382576.1:c.1586C>T	NP_001369505.1:p.Ala529Val
NM_001382577.1:c.1586C>T	NP_001369506.1:p.Ala529Val
NM_001382578.1:c.*222C>T	NP_001369507.1:n.*222C>T
NM_001382579.1:c.*222C>T	NP_001369508.1:n.*222C>T
NM_001382580.1:c.*222C>T	NP_001369509.1:n.*222C>T
NM_001382581.1:c.1319C>T	NP_001369510.1:p.Ala440Val
NM_003156.4:c.1808C>T	NP_003147.2:p.Ala603Val
NR_168436.1:n.1732C>T
NR_168437.1:n.2237C>T
NR_168438.1:n.2059C>T