Canonical Allele Identifier: CA216529732

Gene: STIM1

Linked Data

• ClinVar Variation Id: 530878
• ClinVar RCV Id: RCV002234516
• dbSNP Id: rs199666087
• gnomAD v3: 11-4083315-C-A
• gnomAD v4: 11-4083315-C-A
• MyVariant Identifiers: chr11:g.4104545C>A (hg19) ; chr11:g.4083315C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083315C>A , CM000673.2:g.4083315C>A	GRCh38
NC_000011.9:g.4104545C>A , CM000673.1:g.4104545C>A	GRCh37
NC_000011.8:g.4061121C>A	NCBI36
NG_016277.1:g.232613C>A , LRG_164:g.232613C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.1069C>A	ENSP00000432210.2:p.Gln357Lys
ENST00000533343.2:n.1890C>A
ENST00000698909.1:n.2148C>A
ENST00000698910.1:c.802C>A	ENSP00000514024.1:p.Gln268Lys
ENST00000698911.1:c.1069C>A	ENSP00000514025.1:p.Gln357Lys
ENST00000698912.1:c.1069C>A	ENSP00000514026.1:p.Gln357Lys
ENST00000698913.1:c.1069C>A	ENSP00000514027.1:p.Gln357Lys
ENST00000698915.1:c.1291C>A	ENSP00000514029.1:p.Gln431Lys
ENST00000698916.1:c.1312C>A	ENSP00000514030.1:p.Gln438Lys
ENST00000698918.1:c.*992C>A	ENSP00000514031.1:n.*992C>A
ENST00000698919.1:c.*224C>A	ENSP00000514032.1:n.*224C>A
ENST00000698920.1:n.591C>A
ENST00000526596.2:c.1291C>A MANE Select	ENSP00000433266.2:p.Gln431Lys
ENST00000300737.8:c.1291C>A	ENSP00000300737.4:p.Gln431Lys
ENST00000526596.1:c.483C>A
ENST00000527651.5:c.1291C>A	ENSP00000436208.1:p.Gln431Lys
ENST00000531332.1:n.159C>A
ENST00000533343.1:n.301C>A
ENST00000533977.5:c.772C>A	ENSP00000434767.1:p.Gln258Lys
ENST00000616714.4:c.1291C>A	ENSP00000478059.1:p.Gln431Lys
NM_001277961.1:c.1291C>A	NP_001264890.1:p.Gln431Lys
NM_001277962.1:c.1291C>A	NP_001264891.1:p.Gln431Lys
NM_003156.3:c.1291C>A , LRG_164t1:c.1291C>A	NP_003147.2:p.Gln431Lys
NM_001277962.2:c.1291C>A	NP_001264891.1:p.Gln431Lys
NM_001277961.3:c.1291C>A	NP_001264890.1:p.Gln431Lys
NM_001382566.1:c.1069C>A	NP_001369495.1:p.Gln357Lys
NM_001382567.1:c.1291C>A MANE Select	NP_001369496.1:p.Gln431Lys
NM_001382568.1:c.1312C>A	NP_001369497.1:p.Gln438Lys
NM_001382569.1:c.1156C>A	NP_001369498.1:p.Gln386Lys
NM_001382570.1:c.1063C>A	NP_001369499.1:p.Gln355Lys
NM_001382571.1:c.811C>A	NP_001369500.1:p.Gln271Lys
NM_001382573.1:c.1069C>A	NP_001369502.1:p.Gln357Lys
NM_001382575.1:c.1069C>A	NP_001369504.1:p.Gln357Lys
NM_001382576.1:c.1069C>A	NP_001369505.1:p.Gln357Lys
NM_001382577.1:c.1069C>A	NP_001369506.1:p.Gln357Lys
NM_001382578.1:c.1069C>A	NP_001369507.1:p.Gln357Lys
NM_001382579.1:c.1069C>A	NP_001369508.1:p.Gln357Lys
NM_001382580.1:c.802C>A	NP_001369509.1:p.Gln268Lys
NM_001382581.1:c.802C>A	NP_001369510.1:p.Gln268Lys
NM_003156.4:c.1291C>A	NP_003147.2:p.Gln431Lys
NR_168436.1:n.1399-3162C>A
NR_168437.1:n.1720C>A
NR_168438.1:n.1542C>A