Canonical Allele Identifier: CA379194341
Gene: STIM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4083405A>C , CM000673.2:g.4083405A>C GRCh38
NC_000011.9:g.4104635A>C , CM000673.1:g.4104635A>C GRCh37
NC_000011.8:g.4061211A>C NCBI36
NG_016277.1:g.232703A>C , LRG_164:g.232703A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525403.6:c.1159A>C ENSP00000432210.2:p.Met387Leu
ENST00000533343.2:n.1980A>C
ENST00000698909.1:n.2238A>C
ENST00000698910.1:c.892A>C ENSP00000514024.1:p.Met298Leu
ENST00000698911.1:c.1159A>C ENSP00000514025.1:p.Met387Leu
ENST00000698912.1:c.1159A>C ENSP00000514026.1:p.Met387Leu
ENST00000698913.1:c.1159A>C ENSP00000514027.1:p.Met387Leu
ENST00000698915.1:c.1381A>C ENSP00000514029.1:p.Met461Leu
ENST00000698916.1:c.1402A>C ENSP00000514030.1:p.Met468Leu
ENST00000698918.1:c.*1082A>C ENSP00000514031.1:n.*1082A>C
ENST00000698919.1:c.*314A>C ENSP00000514032.1:n.*314A>C
ENST00000698920.1:n.681A>C
ENST00000526596.2:c.1381A>C MANE Select ENSP00000433266.2:p.Met461Leu
ENST00000300737.8:c.1381A>C ENSP00000300737.4:p.Met461Leu
ENST00000526596.1:c.573A>C
ENST00000527651.5:c.1381A>C ENSP00000436208.1:p.Met461Leu
ENST00000531332.1:n.249A>C
ENST00000533343.1:n.391A>C
ENST00000533977.5:c.862A>C ENSP00000434767.1:p.Met288Leu
ENST00000616714.4:c.1381A>C ENSP00000478059.1:p.Met461Leu
NM_001277961.1:c.1381A>C NP_001264890.1:p.Met461Leu
NM_001277962.1:c.1381A>C NP_001264891.1:p.Met461Leu
NM_003156.3:c.1381A>C , LRG_164t1:c.1381A>C NP_003147.2:p.Met461Leu
NM_001277962.2:c.1381A>C NP_001264891.1:p.Met461Leu
NM_001277961.3:c.1381A>C NP_001264890.1:p.Met461Leu
NM_001382566.1:c.1159A>C NP_001369495.1:p.Met387Leu
NM_001382567.1:c.1381A>C MANE Select NP_001369496.1:p.Met461Leu
NM_001382568.1:c.1402A>C NP_001369497.1:p.Met468Leu
NM_001382569.1:c.1246A>C NP_001369498.1:p.Met416Leu
NM_001382570.1:c.1153A>C NP_001369499.1:p.Met385Leu
NM_001382571.1:c.901A>C NP_001369500.1:p.Met301Leu
NM_001382573.1:c.1159A>C NP_001369502.1:p.Met387Leu
NM_001382575.1:c.1159A>C NP_001369504.1:p.Met387Leu
NM_001382576.1:c.1159A>C NP_001369505.1:p.Met387Leu
NM_001382577.1:c.1159A>C NP_001369506.1:p.Met387Leu
NM_001382578.1:c.1159A>C NP_001369507.1:p.Met387Leu
NM_001382579.1:c.1159A>C NP_001369508.1:p.Met387Leu
NM_001382580.1:c.892A>C NP_001369509.1:p.Met298Leu
NM_001382581.1:c.892A>C NP_001369510.1:p.Met298Leu
NM_003156.4:c.1381A>C NP_003147.2:p.Met461Leu
NR_168436.1:n.1399-3072A>C
NR_168437.1:n.1810A>C
NR_168438.1:n.1632A>C