Canonical Allele Identifier: CA379197449

Gene: STIM1

Linked Data

• MyVariant Identifiers: chr11:g.4112774T>G (hg19) ; chr11:g.4091544T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091544T>G , CM000673.2:g.4091544T>G	GRCh38
NC_000011.9:g.4112774T>G , CM000673.1:g.4112774T>G	GRCh37
NC_000011.8:g.4069350T>G	NCBI36
NG_016277.1:g.240842T>G , LRG_164:g.240842T>G
NG_027992.2:g.1851T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*218T>G	ENSP00000432210.2:n.*218T>G
ENST00000698910.1:c.1315T>G	ENSP00000514024.1:p.Ser439Ala
ENST00000698911.1:c.1900T>G	ENSP00000514025.1:p.Ser634Ala
ENST00000698912.1:c.*218T>G	ENSP00000514026.1:n.*218T>G
ENST00000698913.1:c.1582T>G	ENSP00000514027.1:p.Ser528Ala
ENST00000698915.1:c.1888T>G	ENSP00000514029.1:p.Ser630Ala
ENST00000698916.1:c.1825T>G	ENSP00000514030.1:p.Ser609Ala
ENST00000698918.1:c.*1542T>G	ENSP00000514031.1:n.*1542T>G
ENST00000698919.1:c.*737T>G	ENSP00000514032.1:n.*737T>G
ENST00000698920.1:n.1104T>G
ENST00000526596.2:c.1897T>G MANE Select	ENSP00000433266.2:p.Ser633Ala
ENST00000300737.8:c.1804T>G	ENSP00000300737.4:p.Ser602Ala
ENST00000526156.1:n.602T>G
ENST00000526596.1:c.1089T>G
ENST00000527651.5:c.*218T>G	ENSP00000436208.1:n.*218T>G
ENST00000533977.5:c.1285T>G	ENSP00000434767.1:p.Ser429Ala
ENST00000616714.4:c.2122T>G	ENSP00000478059.1:p.Ser708Ala
NM_001277961.1:c.2122T>G	NP_001264890.1:p.Ser708Ala
NM_001277962.1:c.*218T>G	NP_001264891.1:n.*218T>G
NM_003156.3:c.1804T>G , LRG_164t1:c.1804T>G	NP_003147.2:p.Ser602Ala
NM_001277962.2:c.*218T>G	NP_001264891.1:n.*218T>G
NM_001277961.3:c.2122T>G	NP_001264890.1:p.Ser708Ala
NM_001382566.1:c.1900T>G	NP_001369495.1:p.Ser634Ala
NM_001382567.1:c.1897T>G MANE Select	NP_001369496.1:p.Ser633Ala
NM_001382568.1:c.1825T>G	NP_001369497.1:p.Ser609Ala
NM_001382569.1:c.1669T>G	NP_001369498.1:p.Ser557Ala
NM_001382570.1:c.1576T>G	NP_001369499.1:p.Ser526Ala
NM_001382571.1:c.1324T>G	NP_001369500.1:p.Ser442Ala
NM_001382575.1:c.1582T>G	NP_001369504.1:p.Ser528Ala
NM_001382576.1:c.1582T>G	NP_001369505.1:p.Ser528Ala
NM_001382577.1:c.1582T>G	NP_001369506.1:p.Ser528Ala
NM_001382578.1:c.*218T>G	NP_001369507.1:n.*218T>G
NM_001382579.1:c.*218T>G	NP_001369508.1:n.*218T>G
NM_001382580.1:c.*218T>G	NP_001369509.1:n.*218T>G
NM_001382581.1:c.1315T>G	NP_001369510.1:p.Ser439Ala
NM_003156.4:c.1804T>G	NP_003147.2:p.Ser602Ala
NR_168436.1:n.1728T>G
NR_168437.1:n.2233T>G
NR_168438.1:n.2055T>G