Canonical Allele Identifier: CA379194126

Gene: STIM1

Linked Data

• gnomAD v4: 11-4083310-G-A
• COSMIC: COSM5483567
• MyVariant Identifiers: chr11:g.4104540G>A (hg19) ; chr11:g.4083310G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083310G>A , CM000673.2:g.4083310G>A	GRCh38
NC_000011.9:g.4104540G>A , CM000673.1:g.4104540G>A	GRCh37
NC_000011.8:g.4061116G>A	NCBI36
NG_016277.1:g.232608G>A , LRG_164:g.232608G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525403.6:c.1064G>A	ENSP00000432210.2:p.Arg355His
ENST00000533343.2:n.1885G>A
ENST00000698909.1:n.2143G>A
ENST00000698910.1:c.797G>A	ENSP00000514024.1:p.Arg266His
ENST00000698911.1:c.1064G>A	ENSP00000514025.1:p.Arg355His
ENST00000698912.1:c.1064G>A	ENSP00000514026.1:p.Arg355His
ENST00000698913.1:c.1064G>A	ENSP00000514027.1:p.Arg355His
ENST00000698915.1:c.1286G>A	ENSP00000514029.1:p.Arg429His
ENST00000698916.1:c.1307G>A	ENSP00000514030.1:p.Arg436His
ENST00000698918.1:c.*987G>A	ENSP00000514031.1:n.*987G>A
ENST00000698919.1:c.*219G>A	ENSP00000514032.1:n.*219G>A
ENST00000698920.1:n.586G>A
ENST00000526596.2:c.1286G>A MANE Select	ENSP00000433266.2:p.Arg429His
ENST00000300737.8:c.1286G>A	ENSP00000300737.4:p.Arg429His
ENST00000526596.1:c.478G>A
ENST00000527651.5:c.1286G>A	ENSP00000436208.1:p.Arg429His
ENST00000531332.1:n.154G>A
ENST00000533343.1:n.296G>A
ENST00000533977.5:c.767G>A	ENSP00000434767.1:p.Arg256His
ENST00000616714.4:c.1286G>A	ENSP00000478059.1:p.Arg429His
NM_001277961.1:c.1286G>A	NP_001264890.1:p.Arg429His
NM_001277962.1:c.1286G>A	NP_001264891.1:p.Arg429His
NM_003156.3:c.1286G>A , LRG_164t1:c.1286G>A	NP_003147.2:p.Arg429His
NM_001277962.2:c.1286G>A	NP_001264891.1:p.Arg429His
NM_001277961.3:c.1286G>A	NP_001264890.1:p.Arg429His
NM_001382566.1:c.1064G>A	NP_001369495.1:p.Arg355His
NM_001382567.1:c.1286G>A MANE Select	NP_001369496.1:p.Arg429His
NM_001382568.1:c.1307G>A	NP_001369497.1:p.Arg436His
NM_001382569.1:c.1151G>A	NP_001369498.1:p.Arg384His
NM_001382570.1:c.1058G>A	NP_001369499.1:p.Arg353His
NM_001382571.1:c.806G>A	NP_001369500.1:p.Arg269His
NM_001382573.1:c.1064G>A	NP_001369502.1:p.Arg355His
NM_001382575.1:c.1064G>A	NP_001369504.1:p.Arg355His
NM_001382576.1:c.1064G>A	NP_001369505.1:p.Arg355His
NM_001382577.1:c.1064G>A	NP_001369506.1:p.Arg355His
NM_001382578.1:c.1064G>A	NP_001369507.1:p.Arg355His
NM_001382579.1:c.1064G>A	NP_001369508.1:p.Arg355His
NM_001382580.1:c.797G>A	NP_001369509.1:p.Arg266His
NM_001382581.1:c.797G>A	NP_001369510.1:p.Arg266His
NM_003156.4:c.1286G>A	NP_003147.2:p.Arg429His
NR_168436.1:n.1399-3167G>A
NR_168437.1:n.1715G>A
NR_168438.1:n.1537G>A