Canonical Allele Identifier: CA2612107132
Gene: STIM1 HGNC NCBI

Linked Data

gnomAD v4: 11-4083078-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4083078G>T , CM000673.2:g.4083078G>T GRCh38
NC_000011.9:g.4104308G>T , CM000673.1:g.4104308G>T GRCh37
NC_000011.8:g.4060884G>T NCBI36
NG_016277.1:g.232376G>T , LRG_164:g.232376G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525403.6:c.1016+96G>T ENSP00000432210.2:n.1016+96G>T
ENST00000533343.2:n.1837+96G>T
ENST00000698909.1:n.1911G>T
ENST00000698910.1:c.749+96G>T ENSP00000514024.1:n.749+96G>T
ENST00000698911.1:c.1016+96G>T ENSP00000514025.1:n.1016+96G>T
ENST00000698912.1:c.1016+96G>T ENSP00000514026.1:n.1016+96G>T
ENST00000698913.1:c.1016+96G>T ENSP00000514027.1:n.1016+96G>T
ENST00000698915.1:c.1238+96G>T ENSP00000514029.1:n.1238+96G>T
ENST00000698916.1:c.1259+96G>T ENSP00000514030.1:n.1259+96G>T
ENST00000698918.1:c.*939+96G>T ENSP00000514031.1:n.*939+96G>T
ENST00000698919.1:c.*171+96G>T ENSP00000514032.1:n.*171+96G>T
ENST00000698920.1:n.538+96G>T
ENST00000526596.2:c.1238+96G>T MANE Select ENSP00000433266.2:n.1238+96G>T
ENST00000300737.8:c.1238+96G>T ENSP00000300737.4:n.1238+96G>T
ENST00000526596.1:c.430+96G>T
ENST00000527651.5:c.1238+96G>T ENSP00000436208.1:n.1238+96G>T
ENST00000533343.1:n.248+96G>T
ENST00000533977.5:c.719+96G>T ENSP00000434767.1:n.719+96G>T
ENST00000616714.4:c.1238+96G>T ENSP00000478059.1:n.1238+96G>T
NM_001277961.1:c.1238+96G>T NP_001264890.1:n.1238+96G>T
NM_001277962.1:c.1238+96G>T NP_001264891.1:n.1238+96G>T
NM_003156.3:c.1238+96G>T , LRG_164t1:c.1238+96G>T NP_003147.2:n.1238+96G>T
NM_001277962.2:c.1238+96G>T NP_001264891.1:n.1238+96G>T
NM_001277961.3:c.1238+96G>T NP_001264890.1:n.1238+96G>T
NM_001382566.1:c.1016+96G>T NP_001369495.1:n.1016+96G>T
NM_001382567.1:c.1238+96G>T MANE Select NP_001369496.1:n.1238+96G>T
NM_001382568.1:c.1238+96G>T NP_001369497.1:n.1238+96G>T
NM_001382569.1:c.1103+96G>T NP_001369498.1:n.1103+96G>T
NM_001382570.1:c.1010+96G>T NP_001369499.1:n.1010+96G>T
NM_001382571.1:c.758+96G>T NP_001369500.1:n.758+96G>T
NM_001382573.1:c.1016+96G>T NP_001369502.1:n.1016+96G>T
NM_001382575.1:c.1016+96G>T NP_001369504.1:n.1016+96G>T
NM_001382576.1:c.1016+96G>T NP_001369505.1:n.1016+96G>T
NM_001382577.1:c.1016+96G>T NP_001369506.1:n.1016+96G>T
NM_001382578.1:c.1016+96G>T NP_001369507.1:n.1016+96G>T
NM_001382579.1:c.1016+96G>T NP_001369508.1:n.1016+96G>T
NM_001382580.1:c.749+96G>T NP_001369509.1:n.749+96G>T
NM_001382581.1:c.749+96G>T NP_001369510.1:n.749+96G>T
NM_003156.4:c.1238+96G>T NP_003147.2:n.1238+96G>T
NR_168436.1:n.1399-3399G>T
NR_168437.1:n.1667+96G>T
NR_168438.1:n.1489+96G>T