Canonical Allele Identifier: CA379197289

Gene: STIM1

Linked Data

• MyVariant Identifiers: chr11:g.4112734T>G (hg19) ; chr11:g.4091504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091504T>G , CM000673.2:g.4091504T>G	GRCh38
NC_000011.9:g.4112734T>G , CM000673.1:g.4112734T>G	GRCh37
NC_000011.8:g.4069310T>G	NCBI36
NG_016277.1:g.240802T>G , LRG_164:g.240802T>G
NG_027992.2:g.1811T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*178T>G	ENSP00000432210.2:n.*178T>G
ENST00000698910.1:c.1275T>G	ENSP00000514024.1:p.His425Gln
ENST00000698911.1:c.1860T>G	ENSP00000514025.1:p.His620Gln
ENST00000698912.1:c.*178T>G	ENSP00000514026.1:n.*178T>G
ENST00000698913.1:c.1542T>G	ENSP00000514027.1:p.His514Gln
ENST00000698915.1:c.1848T>G	ENSP00000514029.1:p.His616Gln
ENST00000698916.1:c.1785T>G	ENSP00000514030.1:p.His595Gln
ENST00000698918.1:c.*1502T>G	ENSP00000514031.1:n.*1502T>G
ENST00000698919.1:c.*697T>G	ENSP00000514032.1:n.*697T>G
ENST00000698920.1:n.1064T>G
ENST00000526596.2:c.1857T>G MANE Select	ENSP00000433266.2:p.His619Gln
ENST00000300737.8:c.1764T>G	ENSP00000300737.4:p.His588Gln
ENST00000526156.1:n.562T>G
ENST00000526596.1:c.1049T>G
ENST00000527651.5:c.*178T>G	ENSP00000436208.1:n.*178T>G
ENST00000533977.5:c.1245T>G	ENSP00000434767.1:p.His415Gln
ENST00000616714.4:c.2082T>G	ENSP00000478059.1:p.His694Gln
NM_001277961.1:c.2082T>G	NP_001264890.1:p.His694Gln
NM_001277962.1:c.*178T>G	NP_001264891.1:n.*178T>G
NM_003156.3:c.1764T>G , LRG_164t1:c.1764T>G	NP_003147.2:p.His588Gln
NM_001277962.2:c.*178T>G	NP_001264891.1:n.*178T>G
NM_001277961.3:c.2082T>G	NP_001264890.1:p.His694Gln
NM_001382566.1:c.1860T>G	NP_001369495.1:p.His620Gln
NM_001382567.1:c.1857T>G MANE Select	NP_001369496.1:p.His619Gln
NM_001382568.1:c.1785T>G	NP_001369497.1:p.His595Gln
NM_001382569.1:c.1629T>G	NP_001369498.1:p.His543Gln
NM_001382570.1:c.1536T>G	NP_001369499.1:p.His512Gln
NM_001382571.1:c.1284T>G	NP_001369500.1:p.His428Gln
NM_001382575.1:c.1542T>G	NP_001369504.1:p.His514Gln
NM_001382576.1:c.1542T>G	NP_001369505.1:p.His514Gln
NM_001382577.1:c.1542T>G	NP_001369506.1:p.His514Gln
NM_001382578.1:c.*178T>G	NP_001369507.1:n.*178T>G
NM_001382579.1:c.*178T>G	NP_001369508.1:n.*178T>G
NM_001382580.1:c.*178T>G	NP_001369509.1:n.*178T>G
NM_001382581.1:c.1275T>G	NP_001369510.1:p.His425Gln
NM_003156.4:c.1764T>G	NP_003147.2:p.His588Gln
NR_168436.1:n.1688T>G
NR_168437.1:n.2193T>G
NR_168438.1:n.2015T>G