Canonical Allele Identifier: CA379193882

Gene: STIM1

Linked Data

• ClinVar Variation Id: 1714115
• ClinVar RCV Id: RCV002297098
• MyVariant Identifiers: chr11:g.4104187G>A (hg19) ; chr11:g.4082957G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4082957G>A , CM000673.2:g.4082957G>A	GRCh38
NC_000011.9:g.4104187G>A , CM000673.1:g.4104187G>A	GRCh37
NC_000011.8:g.4060763G>A	NCBI36
NG_016277.1:g.232255G>A , LRG_164:g.232255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.991G>A	ENSP00000432210.2:p.Val331Ile
ENST00000533343.2:n.1812G>A
ENST00000698909.1:n.1790G>A
ENST00000698910.1:c.724G>A	ENSP00000514024.1:p.Val242Ile
ENST00000698911.1:c.991G>A	ENSP00000514025.1:p.Val331Ile
ENST00000698912.1:c.991G>A	ENSP00000514026.1:p.Val331Ile
ENST00000698913.1:c.991G>A	ENSP00000514027.1:p.Val331Ile
ENST00000698915.1:c.1213G>A	ENSP00000514029.1:p.Val405Ile
ENST00000698916.1:c.1234G>A	ENSP00000514030.1:p.Val412Ile
ENST00000698918.1:c.*914G>A	ENSP00000514031.1:n.*914G>A
ENST00000698919.1:c.*146G>A	ENSP00000514032.1:n.*146G>A
ENST00000698920.1:n.513G>A
ENST00000526596.2:c.1213G>A MANE Select	ENSP00000433266.2:p.Val405Ile
ENST00000300737.8:c.1213G>A	ENSP00000300737.4:p.Val405Ile
ENST00000526596.1:c.405G>A
ENST00000527651.5:c.1213G>A	ENSP00000436208.1:p.Val405Ile
ENST00000533343.1:n.223G>A
ENST00000533977.5:c.694G>A	ENSP00000434767.1:p.Val232Ile
ENST00000616714.4:c.1213G>A	ENSP00000478059.1:p.Val405Ile
NM_001277961.1:c.1213G>A	NP_001264890.1:p.Val405Ile
NM_001277962.1:c.1213G>A	NP_001264891.1:p.Val405Ile
NM_003156.3:c.1213G>A , LRG_164t1:c.1213G>A	NP_003147.2:p.Val405Ile
NM_001277962.2:c.1213G>A	NP_001264891.1:p.Val405Ile
NM_001277961.3:c.1213G>A	NP_001264890.1:p.Val405Ile
NM_001382566.1:c.991G>A	NP_001369495.1:p.Val331Ile
NM_001382567.1:c.1213G>A MANE Select	NP_001369496.1:p.Val405Ile
NM_001382568.1:c.1213G>A	NP_001369497.1:p.Val405Ile
NM_001382569.1:c.1078G>A	NP_001369498.1:p.Val360Ile
NM_001382570.1:c.985G>A	NP_001369499.1:p.Val329Ile
NM_001382571.1:c.733G>A	NP_001369500.1:p.Val245Ile
NM_001382573.1:c.991G>A	NP_001369502.1:p.Val331Ile
NM_001382575.1:c.991G>A	NP_001369504.1:p.Val331Ile
NM_001382576.1:c.991G>A	NP_001369505.1:p.Val331Ile
NM_001382577.1:c.991G>A	NP_001369506.1:p.Val331Ile
NM_001382578.1:c.991G>A	NP_001369507.1:p.Val331Ile
NM_001382579.1:c.991G>A	NP_001369508.1:p.Val331Ile
NM_001382580.1:c.724G>A	NP_001369509.1:p.Val242Ile
NM_001382581.1:c.724G>A	NP_001369510.1:p.Val242Ile
NM_003156.4:c.1213G>A	NP_003147.2:p.Val405Ile
NR_168436.1:n.1399-3520G>A
NR_168437.1:n.1642G>A
NR_168438.1:n.1464G>A