Canonical Allele Identifier: CA130849

Gene: STIM1

Linked Data

• ClinVar Variation Id: 41464
• ClinVar RCV Id: RCV001061682
• dbSNP Id: rs397514671
• ExAC: 11:4104539 C / T
• gnomAD v2: 11-4104539-C-T
• gnomAD v4: 11-4083309-C-T
• MyVariant Identifiers: chr11:g.4104539C>T (hg19) ; chr11:g.4083309C>T (hg38)
• PubMed: PMID:22190180

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083309C>T , CM000673.2:g.4083309C>T	GRCh38
NC_000011.9:g.4104539C>T , CM000673.1:g.4104539C>T	GRCh37
NC_000011.8:g.4061115C>T	NCBI36
NG_016277.1:g.232607C>T , LRG_164:g.232607C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525403.6:c.1063C>T	ENSP00000432210.2:p.Arg355Cys
ENST00000533343.2:n.1884C>T
ENST00000698909.1:n.2142C>T
ENST00000698910.1:c.796C>T	ENSP00000514024.1:p.Arg266Cys
ENST00000698911.1:c.1063C>T	ENSP00000514025.1:p.Arg355Cys
ENST00000698912.1:c.1063C>T	ENSP00000514026.1:p.Arg355Cys
ENST00000698913.1:c.1063C>T	ENSP00000514027.1:p.Arg355Cys
ENST00000698915.1:c.1285C>T	ENSP00000514029.1:p.Arg429Cys
ENST00000698916.1:c.1306C>T	ENSP00000514030.1:p.Arg436Cys
ENST00000698918.1:c.*986C>T	ENSP00000514031.1:n.*986C>T
ENST00000698919.1:c.*218C>T	ENSP00000514032.1:n.*218C>T
ENST00000698920.1:n.585C>T
ENST00000526596.2:c.1285C>T MANE Select	ENSP00000433266.2:p.Arg429Cys
ENST00000300737.8:c.1285C>T	ENSP00000300737.4:p.Arg429Cys
ENST00000526596.1:c.477C>T
ENST00000527651.5:c.1285C>T	ENSP00000436208.1:p.Arg429Cys
ENST00000531332.1:n.153C>T
ENST00000533343.1:n.295C>T
ENST00000533977.5:c.766C>T	ENSP00000434767.1:p.Arg256Cys
ENST00000616714.4:c.1285C>T	ENSP00000478059.1:p.Arg429Cys
NM_001277961.1:c.1285C>T	NP_001264890.1:p.Arg429Cys
NM_001277962.1:c.1285C>T	NP_001264891.1:p.Arg429Cys
NM_003156.3:c.1285C>T , LRG_164t1:c.1285C>T	NP_003147.2:p.Arg429Cys
NM_001277962.2:c.1285C>T	NP_001264891.1:p.Arg429Cys
NM_001277961.3:c.1285C>T	NP_001264890.1:p.Arg429Cys
NM_001382566.1:c.1063C>T	NP_001369495.1:p.Arg355Cys
NM_001382567.1:c.1285C>T MANE Select	NP_001369496.1:p.Arg429Cys
NM_001382568.1:c.1306C>T	NP_001369497.1:p.Arg436Cys
NM_001382569.1:c.1150C>T	NP_001369498.1:p.Arg384Cys
NM_001382570.1:c.1057C>T	NP_001369499.1:p.Arg353Cys
NM_001382571.1:c.805C>T	NP_001369500.1:p.Arg269Cys
NM_001382573.1:c.1063C>T	NP_001369502.1:p.Arg355Cys
NM_001382575.1:c.1063C>T	NP_001369504.1:p.Arg355Cys
NM_001382576.1:c.1063C>T	NP_001369505.1:p.Arg355Cys
NM_001382577.1:c.1063C>T	NP_001369506.1:p.Arg355Cys
NM_001382578.1:c.1063C>T	NP_001369507.1:p.Arg355Cys
NM_001382579.1:c.1063C>T	NP_001369508.1:p.Arg355Cys
NM_001382580.1:c.796C>T	NP_001369509.1:p.Arg266Cys
NM_001382581.1:c.796C>T	NP_001369510.1:p.Arg266Cys
NM_003156.4:c.1285C>T	NP_003147.2:p.Arg429Cys
NR_168436.1:n.1399-3168C>T
NR_168437.1:n.1714C>T
NR_168438.1:n.1536C>T