Canonical Allele Identifier: CA379194111
Gene: STIM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4083301G>T , CM000673.2:g.4083301G>T GRCh38
NC_000011.9:g.4104531G>T , CM000673.1:g.4104531G>T GRCh37
NC_000011.8:g.4061107G>T NCBI36
NG_016277.1:g.232599G>T , LRG_164:g.232599G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525403.6:c.1055G>T ENSP00000432210.2:p.Arg352Leu
ENST00000533343.2:n.1876G>T
ENST00000698909.1:n.2134G>T
ENST00000698910.1:c.788G>T ENSP00000514024.1:p.Arg263Leu
ENST00000698911.1:c.1055G>T ENSP00000514025.1:p.Arg352Leu
ENST00000698912.1:c.1055G>T ENSP00000514026.1:p.Arg352Leu
ENST00000698913.1:c.1055G>T ENSP00000514027.1:p.Arg352Leu
ENST00000698915.1:c.1277G>T ENSP00000514029.1:p.Arg426Leu
ENST00000698916.1:c.1298G>T ENSP00000514030.1:p.Arg433Leu
ENST00000698918.1:c.*978G>T ENSP00000514031.1:n.*978G>T
ENST00000698919.1:c.*210G>T ENSP00000514032.1:n.*210G>T
ENST00000698920.1:n.577G>T
ENST00000526596.2:c.1277G>T MANE Select ENSP00000433266.2:p.Arg426Leu
ENST00000300737.8:c.1277G>T ENSP00000300737.4:p.Arg426Leu
ENST00000526596.1:c.469G>T
ENST00000527651.5:c.1277G>T ENSP00000436208.1:p.Arg426Leu
ENST00000531332.1:n.145G>T
ENST00000533343.1:n.287G>T
ENST00000533977.5:c.758G>T ENSP00000434767.1:p.Arg253Leu
ENST00000616714.4:c.1277G>T ENSP00000478059.1:p.Arg426Leu
NM_001277961.1:c.1277G>T NP_001264890.1:p.Arg426Leu
NM_001277962.1:c.1277G>T NP_001264891.1:p.Arg426Leu
NM_003156.3:c.1277G>T , LRG_164t1:c.1277G>T NP_003147.2:p.Arg426Leu
NM_001277962.2:c.1277G>T NP_001264891.1:p.Arg426Leu
NM_001277961.3:c.1277G>T NP_001264890.1:p.Arg426Leu
NM_001382566.1:c.1055G>T NP_001369495.1:p.Arg352Leu
NM_001382567.1:c.1277G>T MANE Select NP_001369496.1:p.Arg426Leu
NM_001382568.1:c.1298G>T NP_001369497.1:p.Arg433Leu
NM_001382569.1:c.1142G>T NP_001369498.1:p.Arg381Leu
NM_001382570.1:c.1049G>T NP_001369499.1:p.Arg350Leu
NM_001382571.1:c.797G>T NP_001369500.1:p.Arg266Leu
NM_001382573.1:c.1055G>T NP_001369502.1:p.Arg352Leu
NM_001382575.1:c.1055G>T NP_001369504.1:p.Arg352Leu
NM_001382576.1:c.1055G>T NP_001369505.1:p.Arg352Leu
NM_001382577.1:c.1055G>T NP_001369506.1:p.Arg352Leu
NM_001382578.1:c.1055G>T NP_001369507.1:p.Arg352Leu
NM_001382579.1:c.1055G>T NP_001369508.1:p.Arg352Leu
NM_001382580.1:c.788G>T NP_001369509.1:p.Arg263Leu
NM_001382581.1:c.788G>T NP_001369510.1:p.Arg263Leu
NM_003156.4:c.1277G>T NP_003147.2:p.Arg426Leu
NR_168436.1:n.1399-3176G>T
NR_168437.1:n.1706G>T
NR_168438.1:n.1528G>T