Canonical Allele Identifier: CA379194271

Gene: STIM1

Linked Data

• MyVariant Identifiers: chr11:g.4104603T>A (hg19) ; chr11:g.4083373T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083373T>A , CM000673.2:g.4083373T>A	GRCh38
NC_000011.9:g.4104603T>A , CM000673.1:g.4104603T>A	GRCh37
NC_000011.8:g.4061179T>A	NCBI36
NG_016277.1:g.232671T>A , LRG_164:g.232671T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.1127T>A	ENSP00000432210.2:p.Leu376Gln
ENST00000533343.2:n.1948T>A
ENST00000698909.1:n.2206T>A
ENST00000698910.1:c.860T>A	ENSP00000514024.1:p.Leu287Gln
ENST00000698911.1:c.1127T>A	ENSP00000514025.1:p.Leu376Gln
ENST00000698912.1:c.1127T>A	ENSP00000514026.1:p.Leu376Gln
ENST00000698913.1:c.1127T>A	ENSP00000514027.1:p.Leu376Gln
ENST00000698915.1:c.1349T>A	ENSP00000514029.1:p.Leu450Gln
ENST00000698916.1:c.1370T>A	ENSP00000514030.1:p.Leu457Gln
ENST00000698918.1:c.*1050T>A	ENSP00000514031.1:n.*1050T>A
ENST00000698919.1:c.*282T>A	ENSP00000514032.1:n.*282T>A
ENST00000698920.1:n.649T>A
ENST00000526596.2:c.1349T>A MANE Select	ENSP00000433266.2:p.Leu450Gln
ENST00000300737.8:c.1349T>A	ENSP00000300737.4:p.Leu450Gln
ENST00000526596.1:c.541T>A
ENST00000527651.5:c.1349T>A	ENSP00000436208.1:p.Leu450Gln
ENST00000531332.1:n.217T>A
ENST00000533343.1:n.359T>A
ENST00000533977.5:c.830T>A	ENSP00000434767.1:p.Leu277Gln
ENST00000616714.4:c.1349T>A	ENSP00000478059.1:p.Leu450Gln
NM_001277961.1:c.1349T>A	NP_001264890.1:p.Leu450Gln
NM_001277962.1:c.1349T>A	NP_001264891.1:p.Leu450Gln
NM_003156.3:c.1349T>A , LRG_164t1:c.1349T>A	NP_003147.2:p.Leu450Gln
NM_001277962.2:c.1349T>A	NP_001264891.1:p.Leu450Gln
NM_001277961.3:c.1349T>A	NP_001264890.1:p.Leu450Gln
NM_001382566.1:c.1127T>A	NP_001369495.1:p.Leu376Gln
NM_001382567.1:c.1349T>A MANE Select	NP_001369496.1:p.Leu450Gln
NM_001382568.1:c.1370T>A	NP_001369497.1:p.Leu457Gln
NM_001382569.1:c.1214T>A	NP_001369498.1:p.Leu405Gln
NM_001382570.1:c.1121T>A	NP_001369499.1:p.Leu374Gln
NM_001382571.1:c.869T>A	NP_001369500.1:p.Leu290Gln
NM_001382573.1:c.1127T>A	NP_001369502.1:p.Leu376Gln
NM_001382575.1:c.1127T>A	NP_001369504.1:p.Leu376Gln
NM_001382576.1:c.1127T>A	NP_001369505.1:p.Leu376Gln
NM_001382577.1:c.1127T>A	NP_001369506.1:p.Leu376Gln
NM_001382578.1:c.1127T>A	NP_001369507.1:p.Leu376Gln
NM_001382579.1:c.1127T>A	NP_001369508.1:p.Leu376Gln
NM_001382580.1:c.860T>A	NP_001369509.1:p.Leu287Gln
NM_001382581.1:c.860T>A	NP_001369510.1:p.Leu287Gln
NM_003156.4:c.1349T>A	NP_003147.2:p.Leu450Gln
NR_168436.1:n.1399-3104T>A
NR_168437.1:n.1778T>A
NR_168438.1:n.1600T>A