Canonical Allele Identifier: CA379193930
Gene: STIM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4082969A>T , CM000673.2:g.4082969A>T GRCh38
NC_000011.9:g.4104199A>T , CM000673.1:g.4104199A>T GRCh37
NC_000011.8:g.4060775A>T NCBI36
NG_016277.1:g.232267A>T , LRG_164:g.232267A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525403.6:c.1003A>T ENSP00000432210.2:p.Ile335Phe
ENST00000533343.2:n.1824A>T
ENST00000698909.1:n.1802A>T
ENST00000698910.1:c.736A>T ENSP00000514024.1:p.Ile246Phe
ENST00000698911.1:c.1003A>T ENSP00000514025.1:p.Ile335Phe
ENST00000698912.1:c.1003A>T ENSP00000514026.1:p.Ile335Phe
ENST00000698913.1:c.1003A>T ENSP00000514027.1:p.Ile335Phe
ENST00000698915.1:c.1225A>T ENSP00000514029.1:p.Ile409Phe
ENST00000698916.1:c.1246A>T ENSP00000514030.1:p.Ile416Phe
ENST00000698918.1:c.*926A>T ENSP00000514031.1:n.*926A>T
ENST00000698919.1:c.*158A>T ENSP00000514032.1:n.*158A>T
ENST00000698920.1:n.525A>T
ENST00000526596.2:c.1225A>T MANE Select ENSP00000433266.2:p.Ile409Phe
ENST00000300737.8:c.1225A>T ENSP00000300737.4:p.Ile409Phe
ENST00000526596.1:c.417A>T
ENST00000527651.5:c.1225A>T ENSP00000436208.1:p.Ile409Phe
ENST00000533343.1:n.235A>T
ENST00000533977.5:c.706A>T ENSP00000434767.1:p.Ile236Phe
ENST00000616714.4:c.1225A>T ENSP00000478059.1:p.Ile409Phe
NM_001277961.1:c.1225A>T NP_001264890.1:p.Ile409Phe
NM_001277962.1:c.1225A>T NP_001264891.1:p.Ile409Phe
NM_003156.3:c.1225A>T , LRG_164t1:c.1225A>T NP_003147.2:p.Ile409Phe
NM_001277962.2:c.1225A>T NP_001264891.1:p.Ile409Phe
NM_001277961.3:c.1225A>T NP_001264890.1:p.Ile409Phe
NM_001382566.1:c.1003A>T NP_001369495.1:p.Ile335Phe
NM_001382567.1:c.1225A>T MANE Select NP_001369496.1:p.Ile409Phe
NM_001382568.1:c.1225A>T NP_001369497.1:p.Ile409Phe
NM_001382569.1:c.1090A>T NP_001369498.1:p.Ile364Phe
NM_001382570.1:c.997A>T NP_001369499.1:p.Ile333Phe
NM_001382571.1:c.745A>T NP_001369500.1:p.Ile249Phe
NM_001382573.1:c.1003A>T NP_001369502.1:p.Ile335Phe
NM_001382575.1:c.1003A>T NP_001369504.1:p.Ile335Phe
NM_001382576.1:c.1003A>T NP_001369505.1:p.Ile335Phe
NM_001382577.1:c.1003A>T NP_001369506.1:p.Ile335Phe
NM_001382578.1:c.1003A>T NP_001369507.1:p.Ile335Phe
NM_001382579.1:c.1003A>T NP_001369508.1:p.Ile335Phe
NM_001382580.1:c.736A>T NP_001369509.1:p.Ile246Phe
NM_001382581.1:c.736A>T NP_001369510.1:p.Ile246Phe
NM_003156.4:c.1225A>T NP_003147.2:p.Ile409Phe
NR_168436.1:n.1399-3508A>T
NR_168437.1:n.1654A>T
NR_168438.1:n.1476A>T