Canonical Allele Identifier: CA379197262

Gene: STIM1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*171T>G	ENSP00000432210.2:n.*171T>G
ENST00000698910.1:c.1268T>G	ENSP00000514024.1:p.Leu423Arg
ENST00000698911.1:c.1853T>G	ENSP00000514025.1:p.Leu618Arg
ENST00000698912.1:c.*171T>G	ENSP00000514026.1:n.*171T>G
ENST00000698913.1:c.1535T>G	ENSP00000514027.1:p.Leu512Arg
ENST00000698915.1:c.1841T>G	ENSP00000514029.1:p.Leu614Arg
ENST00000698916.1:c.1778T>G	ENSP00000514030.1:p.Leu593Arg
ENST00000698918.1:c.*1495T>G	ENSP00000514031.1:n.*1495T>G
ENST00000698919.1:c.*690T>G	ENSP00000514032.1:n.*690T>G
ENST00000698920.1:n.1057T>G
ENST00000526596.2:c.1850T>G MANE Select	ENSP00000433266.2:p.Leu617Arg
ENST00000300737.8:c.1757T>G	ENSP00000300737.4:p.Leu586Arg
ENST00000526156.1:n.555T>G
ENST00000526596.1:c.1042T>G
ENST00000527651.5:c.*171T>G	ENSP00000436208.1:n.*171T>G
ENST00000533977.5:c.1238T>G	ENSP00000434767.1:p.Leu413Arg
ENST00000616714.4:c.2075T>G	ENSP00000478059.1:p.Leu692Arg
NM_001277961.1:c.2075T>G	NP_001264890.1:p.Leu692Arg
NM_001277962.1:c.*171T>G	NP_001264891.1:n.*171T>G
NM_003156.3:c.1757T>G , LRG_164t1:c.1757T>G	NP_003147.2:p.Leu586Arg
NM_001277962.2:c.*171T>G	NP_001264891.1:n.*171T>G
NM_001277961.3:c.2075T>G	NP_001264890.1:p.Leu692Arg
NM_001382566.1:c.1853T>G	NP_001369495.1:p.Leu618Arg
NM_001382567.1:c.1850T>G MANE Select	NP_001369496.1:p.Leu617Arg
NM_001382568.1:c.1778T>G	NP_001369497.1:p.Leu593Arg
NM_001382569.1:c.1622T>G	NP_001369498.1:p.Leu541Arg
NM_001382570.1:c.1529T>G	NP_001369499.1:p.Leu510Arg
NM_001382571.1:c.1277T>G	NP_001369500.1:p.Leu426Arg
NM_001382575.1:c.1535T>G	NP_001369504.1:p.Leu512Arg
NM_001382576.1:c.1535T>G	NP_001369505.1:p.Leu512Arg
NM_001382577.1:c.1535T>G	NP_001369506.1:p.Leu512Arg
NM_001382578.1:c.*171T>G	NP_001369507.1:n.*171T>G
NM_001382579.1:c.*171T>G	NP_001369508.1:n.*171T>G
NM_001382580.1:c.*171T>G	NP_001369509.1:n.*171T>G
NM_001382581.1:c.1268T>G	NP_001369510.1:p.Leu423Arg
NM_003156.4:c.1757T>G	NP_003147.2:p.Leu586Arg
NR_168436.1:n.1681T>G
NR_168437.1:n.2186T>G
NR_168438.1:n.2008T>G