Canonical Allele Identifier: CA379194078
Gene: STIM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4083286C>G , CM000673.2:g.4083286C>G GRCh38
NC_000011.9:g.4104516C>G , CM000673.1:g.4104516C>G GRCh37
NC_000011.8:g.4061092C>G NCBI36
NG_016277.1:g.232584C>G , LRG_164:g.232584C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525403.6:c.1040C>G ENSP00000432210.2:p.Ala347Gly
ENST00000533343.2:n.1861C>G
ENST00000698909.1:n.2119C>G
ENST00000698910.1:c.773C>G ENSP00000514024.1:p.Ala258Gly
ENST00000698911.1:c.1040C>G ENSP00000514025.1:p.Ala347Gly
ENST00000698912.1:c.1040C>G ENSP00000514026.1:p.Ala347Gly
ENST00000698913.1:c.1040C>G ENSP00000514027.1:p.Ala347Gly
ENST00000698915.1:c.1262C>G ENSP00000514029.1:p.Ala421Gly
ENST00000698916.1:c.1283C>G ENSP00000514030.1:p.Ala428Gly
ENST00000698918.1:c.*963C>G ENSP00000514031.1:n.*963C>G
ENST00000698919.1:c.*195C>G ENSP00000514032.1:n.*195C>G
ENST00000698920.1:n.562C>G
ENST00000526596.2:c.1262C>G MANE Select ENSP00000433266.2:p.Ala421Gly
ENST00000300737.8:c.1262C>G ENSP00000300737.4:p.Ala421Gly
ENST00000526596.1:c.454C>G
ENST00000527651.5:c.1262C>G ENSP00000436208.1:p.Ala421Gly
ENST00000531332.1:n.130C>G
ENST00000533343.1:n.272C>G
ENST00000533977.5:c.743C>G ENSP00000434767.1:p.Ala248Gly
ENST00000616714.4:c.1262C>G ENSP00000478059.1:p.Ala421Gly
NM_001277961.1:c.1262C>G NP_001264890.1:p.Ala421Gly
NM_001277962.1:c.1262C>G NP_001264891.1:p.Ala421Gly
NM_003156.3:c.1262C>G , LRG_164t1:c.1262C>G NP_003147.2:p.Ala421Gly
NM_001277962.2:c.1262C>G NP_001264891.1:p.Ala421Gly
NM_001277961.3:c.1262C>G NP_001264890.1:p.Ala421Gly
NM_001382566.1:c.1040C>G NP_001369495.1:p.Ala347Gly
NM_001382567.1:c.1262C>G MANE Select NP_001369496.1:p.Ala421Gly
NM_001382568.1:c.1283C>G NP_001369497.1:p.Ala428Gly
NM_001382569.1:c.1127C>G NP_001369498.1:p.Ala376Gly
NM_001382570.1:c.1034C>G NP_001369499.1:p.Ala345Gly
NM_001382571.1:c.782C>G NP_001369500.1:p.Ala261Gly
NM_001382573.1:c.1040C>G NP_001369502.1:p.Ala347Gly
NM_001382575.1:c.1040C>G NP_001369504.1:p.Ala347Gly
NM_001382576.1:c.1040C>G NP_001369505.1:p.Ala347Gly
NM_001382577.1:c.1040C>G NP_001369506.1:p.Ala347Gly
NM_001382578.1:c.1040C>G NP_001369507.1:p.Ala347Gly
NM_001382579.1:c.1040C>G NP_001369508.1:p.Ala347Gly
NM_001382580.1:c.773C>G NP_001369509.1:p.Ala258Gly
NM_001382581.1:c.773C>G NP_001369510.1:p.Ala258Gly
NM_003156.4:c.1262C>G NP_003147.2:p.Ala421Gly
NR_168436.1:n.1399-3191C>G
NR_168437.1:n.1691C>G
NR_168438.1:n.1513C>G