Canonical Allele Identifier: CA379197259

Gene: STIM1

Linked Data

• MyVariant Identifiers: chr11:g.4112727T>A (hg19) ; chr11:g.4091497T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091497T>A , CM000673.2:g.4091497T>A	GRCh38
NC_000011.9:g.4112727T>A , CM000673.1:g.4112727T>A	GRCh37
NC_000011.8:g.4069303T>A	NCBI36
NG_016277.1:g.240795T>A , LRG_164:g.240795T>A
NG_027992.2:g.1804T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*171T>A	ENSP00000432210.2:n.*171T>A
ENST00000698910.1:c.1268T>A	ENSP00000514024.1:p.Leu423Gln
ENST00000698911.1:c.1853T>A	ENSP00000514025.1:p.Leu618Gln
ENST00000698912.1:c.*171T>A	ENSP00000514026.1:n.*171T>A
ENST00000698913.1:c.1535T>A	ENSP00000514027.1:p.Leu512Gln
ENST00000698915.1:c.1841T>A	ENSP00000514029.1:p.Leu614Gln
ENST00000698916.1:c.1778T>A	ENSP00000514030.1:p.Leu593Gln
ENST00000698918.1:c.*1495T>A	ENSP00000514031.1:n.*1495T>A
ENST00000698919.1:c.*690T>A	ENSP00000514032.1:n.*690T>A
ENST00000698920.1:n.1057T>A
ENST00000526596.2:c.1850T>A MANE Select	ENSP00000433266.2:p.Leu617Gln
ENST00000300737.8:c.1757T>A	ENSP00000300737.4:p.Leu586Gln
ENST00000526156.1:n.555T>A
ENST00000526596.1:c.1042T>A
ENST00000527651.5:c.*171T>A	ENSP00000436208.1:n.*171T>A
ENST00000533977.5:c.1238T>A	ENSP00000434767.1:p.Leu413Gln
ENST00000616714.4:c.2075T>A	ENSP00000478059.1:p.Leu692Gln
NM_001277961.1:c.2075T>A	NP_001264890.1:p.Leu692Gln
NM_001277962.1:c.*171T>A	NP_001264891.1:n.*171T>A
NM_003156.3:c.1757T>A , LRG_164t1:c.1757T>A	NP_003147.2:p.Leu586Gln
NM_001277962.2:c.*171T>A	NP_001264891.1:n.*171T>A
NM_001277961.3:c.2075T>A	NP_001264890.1:p.Leu692Gln
NM_001382566.1:c.1853T>A	NP_001369495.1:p.Leu618Gln
NM_001382567.1:c.1850T>A MANE Select	NP_001369496.1:p.Leu617Gln
NM_001382568.1:c.1778T>A	NP_001369497.1:p.Leu593Gln
NM_001382569.1:c.1622T>A	NP_001369498.1:p.Leu541Gln
NM_001382570.1:c.1529T>A	NP_001369499.1:p.Leu510Gln
NM_001382571.1:c.1277T>A	NP_001369500.1:p.Leu426Gln
NM_001382575.1:c.1535T>A	NP_001369504.1:p.Leu512Gln
NM_001382576.1:c.1535T>A	NP_001369505.1:p.Leu512Gln
NM_001382577.1:c.1535T>A	NP_001369506.1:p.Leu512Gln
NM_001382578.1:c.*171T>A	NP_001369507.1:n.*171T>A
NM_001382579.1:c.*171T>A	NP_001369508.1:n.*171T>A
NM_001382580.1:c.*171T>A	NP_001369509.1:n.*171T>A
NM_001382581.1:c.1268T>A	NP_001369510.1:p.Leu423Gln
NM_003156.4:c.1757T>A	NP_003147.2:p.Leu586Gln
NR_168436.1:n.1681T>A
NR_168437.1:n.2186T>A
NR_168438.1:n.2008T>A