Canonical Allele Identifier: CA379193905
Gene: STIM1 HGNC NCBI

Linked Data

gnomAD v4: 11-4082964-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4082964A>C , CM000673.2:g.4082964A>C GRCh38
NC_000011.9:g.4104194A>C , CM000673.1:g.4104194A>C GRCh37
NC_000011.8:g.4060770A>C NCBI36
NG_016277.1:g.232262A>C , LRG_164:g.232262A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525403.6:c.998A>C ENSP00000432210.2:p.His333Pro
ENST00000533343.2:n.1819A>C
ENST00000698909.1:n.1797A>C
ENST00000698910.1:c.731A>C ENSP00000514024.1:p.His244Pro
ENST00000698911.1:c.998A>C ENSP00000514025.1:p.His333Pro
ENST00000698912.1:c.998A>C ENSP00000514026.1:p.His333Pro
ENST00000698913.1:c.998A>C ENSP00000514027.1:p.His333Pro
ENST00000698915.1:c.1220A>C ENSP00000514029.1:p.His407Pro
ENST00000698916.1:c.1241A>C ENSP00000514030.1:p.His414Pro
ENST00000698918.1:c.*921A>C ENSP00000514031.1:n.*921A>C
ENST00000698919.1:c.*153A>C ENSP00000514032.1:n.*153A>C
ENST00000698920.1:n.520A>C
ENST00000526596.2:c.1220A>C MANE Select ENSP00000433266.2:p.His407Pro
ENST00000300737.8:c.1220A>C ENSP00000300737.4:p.His407Pro
ENST00000526596.1:c.412A>C
ENST00000527651.5:c.1220A>C ENSP00000436208.1:p.His407Pro
ENST00000533343.1:n.230A>C
ENST00000533977.5:c.701A>C ENSP00000434767.1:p.His234Pro
ENST00000616714.4:c.1220A>C ENSP00000478059.1:p.His407Pro
NM_001277961.1:c.1220A>C NP_001264890.1:p.His407Pro
NM_001277962.1:c.1220A>C NP_001264891.1:p.His407Pro
NM_003156.3:c.1220A>C , LRG_164t1:c.1220A>C NP_003147.2:p.His407Pro
NM_001277962.2:c.1220A>C NP_001264891.1:p.His407Pro
NM_001277961.3:c.1220A>C NP_001264890.1:p.His407Pro
NM_001382566.1:c.998A>C NP_001369495.1:p.His333Pro
NM_001382567.1:c.1220A>C MANE Select NP_001369496.1:p.His407Pro
NM_001382568.1:c.1220A>C NP_001369497.1:p.His407Pro
NM_001382569.1:c.1085A>C NP_001369498.1:p.His362Pro
NM_001382570.1:c.992A>C NP_001369499.1:p.His331Pro
NM_001382571.1:c.740A>C NP_001369500.1:p.His247Pro
NM_001382573.1:c.998A>C NP_001369502.1:p.His333Pro
NM_001382575.1:c.998A>C NP_001369504.1:p.His333Pro
NM_001382576.1:c.998A>C NP_001369505.1:p.His333Pro
NM_001382577.1:c.998A>C NP_001369506.1:p.His333Pro
NM_001382578.1:c.998A>C NP_001369507.1:p.His333Pro
NM_001382579.1:c.998A>C NP_001369508.1:p.His333Pro
NM_001382580.1:c.731A>C NP_001369509.1:p.His244Pro
NM_001382581.1:c.731A>C NP_001369510.1:p.His244Pro
NM_003156.4:c.1220A>C NP_003147.2:p.His407Pro
NR_168436.1:n.1399-3513A>C
NR_168437.1:n.1649A>C
NR_168438.1:n.1471A>C