Canonical Allele Identifier: CA379194287

Gene: STIM1

Linked Data

• ClinVar Variation Id: 2954504
• ClinVar RCV Id: RCV003815703
• dbSNP Id: rs1590697726
• gnomAD v4: 11-4083381-G-T
• MyVariant Identifiers: chr11:g.4104611G>T (hg19) ; chr11:g.4083381G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083381G>T , CM000673.2:g.4083381G>T	GRCh38
NC_000011.9:g.4104611G>T , CM000673.1:g.4104611G>T	GRCh37
NC_000011.8:g.4061187G>T	NCBI36
NG_016277.1:g.232679G>T , LRG_164:g.232679G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.1135G>T	ENSP00000432210.2:p.Ala379Ser
ENST00000533343.2:n.1956G>T
ENST00000698909.1:n.2214G>T
ENST00000698910.1:c.868G>T	ENSP00000514024.1:p.Ala290Ser
ENST00000698911.1:c.1135G>T	ENSP00000514025.1:p.Ala379Ser
ENST00000698912.1:c.1135G>T	ENSP00000514026.1:p.Ala379Ser
ENST00000698913.1:c.1135G>T	ENSP00000514027.1:p.Ala379Ser
ENST00000698915.1:c.1357G>T	ENSP00000514029.1:p.Ala453Ser
ENST00000698916.1:c.1378G>T	ENSP00000514030.1:p.Ala460Ser
ENST00000698918.1:c.*1058G>T	ENSP00000514031.1:n.*1058G>T
ENST00000698919.1:c.*290G>T	ENSP00000514032.1:n.*290G>T
ENST00000698920.1:n.657G>T
ENST00000526596.2:c.1357G>T MANE Select	ENSP00000433266.2:p.Ala453Ser
ENST00000300737.8:c.1357G>T	ENSP00000300737.4:p.Ala453Ser
ENST00000526596.1:c.549G>T
ENST00000527651.5:c.1357G>T	ENSP00000436208.1:p.Ala453Ser
ENST00000531332.1:n.225G>T
ENST00000533343.1:n.367G>T
ENST00000533977.5:c.838G>T	ENSP00000434767.1:p.Ala280Ser
ENST00000616714.4:c.1357G>T	ENSP00000478059.1:p.Ala453Ser
NM_001277961.1:c.1357G>T	NP_001264890.1:p.Ala453Ser
NM_001277962.1:c.1357G>T	NP_001264891.1:p.Ala453Ser
NM_003156.3:c.1357G>T , LRG_164t1:c.1357G>T	NP_003147.2:p.Ala453Ser
NM_001277962.2:c.1357G>T	NP_001264891.1:p.Ala453Ser
NM_001277961.3:c.1357G>T	NP_001264890.1:p.Ala453Ser
NM_001382566.1:c.1135G>T	NP_001369495.1:p.Ala379Ser
NM_001382567.1:c.1357G>T MANE Select	NP_001369496.1:p.Ala453Ser
NM_001382568.1:c.1378G>T	NP_001369497.1:p.Ala460Ser
NM_001382569.1:c.1222G>T	NP_001369498.1:p.Ala408Ser
NM_001382570.1:c.1129G>T	NP_001369499.1:p.Ala377Ser
NM_001382571.1:c.877G>T	NP_001369500.1:p.Ala293Ser
NM_001382573.1:c.1135G>T	NP_001369502.1:p.Ala379Ser
NM_001382575.1:c.1135G>T	NP_001369504.1:p.Ala379Ser
NM_001382576.1:c.1135G>T	NP_001369505.1:p.Ala379Ser
NM_001382577.1:c.1135G>T	NP_001369506.1:p.Ala379Ser
NM_001382578.1:c.1135G>T	NP_001369507.1:p.Ala379Ser
NM_001382579.1:c.1135G>T	NP_001369508.1:p.Ala379Ser
NM_001382580.1:c.868G>T	NP_001369509.1:p.Ala290Ser
NM_001382581.1:c.868G>T	NP_001369510.1:p.Ala290Ser
NM_003156.4:c.1357G>T	NP_003147.2:p.Ala453Ser
NR_168436.1:n.1399-3096G>T
NR_168437.1:n.1786G>T
NR_168438.1:n.1608G>T