Canonical Allele Identifier: CA379194250

Gene: STIM1

Linked Data

• gnomAD v4: 11-4083363-A-G
• MyVariant Identifiers: chr11:g.4104593A>G (hg19) ; chr11:g.4083363A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083363A>G , CM000673.2:g.4083363A>G	GRCh38
NC_000011.9:g.4104593A>G , CM000673.1:g.4104593A>G	GRCh37
NC_000011.8:g.4061169A>G	NCBI36
NG_016277.1:g.232661A>G , LRG_164:g.232661A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.1117A>G	ENSP00000432210.2:p.Ile373Val
ENST00000533343.2:n.1938A>G
ENST00000698909.1:n.2196A>G
ENST00000698910.1:c.850A>G	ENSP00000514024.1:p.Ile284Val
ENST00000698911.1:c.1117A>G	ENSP00000514025.1:p.Ile373Val
ENST00000698912.1:c.1117A>G	ENSP00000514026.1:p.Ile373Val
ENST00000698913.1:c.1117A>G	ENSP00000514027.1:p.Ile373Val
ENST00000698915.1:c.1339A>G	ENSP00000514029.1:p.Ile447Val
ENST00000698916.1:c.1360A>G	ENSP00000514030.1:p.Ile454Val
ENST00000698918.1:c.*1040A>G	ENSP00000514031.1:n.*1040A>G
ENST00000698919.1:c.*272A>G	ENSP00000514032.1:n.*272A>G
ENST00000698920.1:n.639A>G
ENST00000526596.2:c.1339A>G MANE Select	ENSP00000433266.2:p.Ile447Val
ENST00000300737.8:c.1339A>G	ENSP00000300737.4:p.Ile447Val
ENST00000526596.1:c.531A>G
ENST00000527651.5:c.1339A>G	ENSP00000436208.1:p.Ile447Val
ENST00000531332.1:n.207A>G
ENST00000533343.1:n.349A>G
ENST00000533977.5:c.820A>G	ENSP00000434767.1:p.Ile274Val
ENST00000616714.4:c.1339A>G	ENSP00000478059.1:p.Ile447Val
NM_001277961.1:c.1339A>G	NP_001264890.1:p.Ile447Val
NM_001277962.1:c.1339A>G	NP_001264891.1:p.Ile447Val
NM_003156.3:c.1339A>G , LRG_164t1:c.1339A>G	NP_003147.2:p.Ile447Val
NM_001277962.2:c.1339A>G	NP_001264891.1:p.Ile447Val
NM_001277961.3:c.1339A>G	NP_001264890.1:p.Ile447Val
NM_001382566.1:c.1117A>G	NP_001369495.1:p.Ile373Val
NM_001382567.1:c.1339A>G MANE Select	NP_001369496.1:p.Ile447Val
NM_001382568.1:c.1360A>G	NP_001369497.1:p.Ile454Val
NM_001382569.1:c.1204A>G	NP_001369498.1:p.Ile402Val
NM_001382570.1:c.1111A>G	NP_001369499.1:p.Ile371Val
NM_001382571.1:c.859A>G	NP_001369500.1:p.Ile287Val
NM_001382573.1:c.1117A>G	NP_001369502.1:p.Ile373Val
NM_001382575.1:c.1117A>G	NP_001369504.1:p.Ile373Val
NM_001382576.1:c.1117A>G	NP_001369505.1:p.Ile373Val
NM_001382577.1:c.1117A>G	NP_001369506.1:p.Ile373Val
NM_001382578.1:c.1117A>G	NP_001369507.1:p.Ile373Val
NM_001382579.1:c.1117A>G	NP_001369508.1:p.Ile373Val
NM_001382580.1:c.850A>G	NP_001369509.1:p.Ile284Val
NM_001382581.1:c.850A>G	NP_001369510.1:p.Ile284Val
NM_003156.4:c.1339A>G	NP_003147.2:p.Ile447Val
NR_168436.1:n.1399-3114A>G
NR_168437.1:n.1768A>G
NR_168438.1:n.1590A>G