Canonical Allele Identifier: CA379197509

Gene: STIM1

Linked Data

• ClinVar Variation Id: 2953000
• ClinVar RCV Id: RCV003818134
• dbSNP Id: rs2094525410
• gnomAD v4: 11-4091560-G-C
• MyVariant Identifiers: chr11:g.4112790G>C (hg19) ; chr11:g.4091560G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091560G>C , CM000673.2:g.4091560G>C	GRCh38
NC_000011.9:g.4112790G>C , CM000673.1:g.4112790G>C	GRCh37
NC_000011.8:g.4069366G>C	NCBI36
NG_016277.1:g.240858G>C , LRG_164:g.240858G>C
NG_027992.2:g.1867G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*234G>C	ENSP00000432210.2:n.*234G>C
ENST00000698910.1:c.1331G>C	ENSP00000514024.1:p.Gly444Ala
ENST00000698911.1:c.1916G>C	ENSP00000514025.1:p.Gly639Ala
ENST00000698912.1:c.*234G>C	ENSP00000514026.1:n.*234G>C
ENST00000698913.1:c.1598G>C	ENSP00000514027.1:p.Gly533Ala
ENST00000698915.1:c.1904G>C	ENSP00000514029.1:p.Gly635Ala
ENST00000698916.1:c.1841G>C	ENSP00000514030.1:p.Gly614Ala
ENST00000698918.1:c.*1558G>C	ENSP00000514031.1:n.*1558G>C
ENST00000698919.1:c.*753G>C	ENSP00000514032.1:n.*753G>C
ENST00000698920.1:n.1120G>C
ENST00000526596.2:c.1913G>C MANE Select	ENSP00000433266.2:p.Gly638Ala
ENST00000300737.8:c.1820G>C	ENSP00000300737.4:p.Gly607Ala
ENST00000526156.1:n.618G>C
ENST00000526596.1:c.1105G>C
ENST00000527651.5:c.*234G>C	ENSP00000436208.1:n.*234G>C
ENST00000533977.5:c.1301G>C	ENSP00000434767.1:p.Gly434Ala
ENST00000616714.4:c.2138G>C	ENSP00000478059.1:p.Gly713Ala
NM_001277961.1:c.2138G>C	NP_001264890.1:p.Gly713Ala
NM_001277962.1:c.*234G>C	NP_001264891.1:n.*234G>C
NM_003156.3:c.1820G>C , LRG_164t1:c.1820G>C	NP_003147.2:p.Gly607Ala
NM_001277962.2:c.*234G>C	NP_001264891.1:n.*234G>C
NM_001277961.3:c.2138G>C	NP_001264890.1:p.Gly713Ala
NM_001382566.1:c.1916G>C	NP_001369495.1:p.Gly639Ala
NM_001382567.1:c.1913G>C MANE Select	NP_001369496.1:p.Gly638Ala
NM_001382568.1:c.1841G>C	NP_001369497.1:p.Gly614Ala
NM_001382569.1:c.1685G>C	NP_001369498.1:p.Gly562Ala
NM_001382570.1:c.1592G>C	NP_001369499.1:p.Gly531Ala
NM_001382571.1:c.1340G>C	NP_001369500.1:p.Gly447Ala
NM_001382575.1:c.1598G>C	NP_001369504.1:p.Gly533Ala
NM_001382576.1:c.1598G>C	NP_001369505.1:p.Gly533Ala
NM_001382577.1:c.1598G>C	NP_001369506.1:p.Gly533Ala
NM_001382578.1:c.*234G>C	NP_001369507.1:n.*234G>C
NM_001382579.1:c.*234G>C	NP_001369508.1:n.*234G>C
NM_001382580.1:c.*234G>C	NP_001369509.1:n.*234G>C
NM_001382581.1:c.1331G>C	NP_001369510.1:p.Gly444Ala
NM_003156.4:c.1820G>C	NP_003147.2:p.Gly607Ala
NR_168436.1:n.1744G>C
NR_168437.1:n.2249G>C
NR_168438.1:n.2071G>C