Canonical Allele Identifier: CA216529614

Gene: STIM1

Linked Data

• dbSNP Id: rs140488242
• gnomAD v2: 11-4104351-C-G
• gnomAD v3: 11-4083121-C-G
• gnomAD v4: 11-4083121-C-G
• MyVariant Identifiers: chr11:g.4104351C>G (hg19) ; chr11:g.4083121C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083121C>G , CM000673.2:g.4083121C>G	GRCh38
NC_000011.9:g.4104351C>G , CM000673.1:g.4104351C>G	GRCh37
NC_000011.8:g.4060927C>G	NCBI36
NG_016277.1:g.232419C>G , LRG_164:g.232419C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525403.6:c.1016+139C>G	ENSP00000432210.2:n.1016+139C>G
ENST00000533343.2:n.1837+139C>G
ENST00000698909.1:n.1954C>G
ENST00000698910.1:c.749+139C>G	ENSP00000514024.1:n.749+139C>G
ENST00000698911.1:c.1016+139C>G	ENSP00000514025.1:n.1016+139C>G
ENST00000698912.1:c.1016+139C>G	ENSP00000514026.1:n.1016+139C>G
ENST00000698913.1:c.1016+139C>G	ENSP00000514027.1:n.1016+139C>G
ENST00000698915.1:c.1238+139C>G	ENSP00000514029.1:n.1238+139C>G
ENST00000698916.1:c.1259+139C>G	ENSP00000514030.1:n.1259+139C>G
ENST00000698918.1:c.*939+139C>G	ENSP00000514031.1:n.*939+139C>G
ENST00000698919.1:c.*171+139C>G	ENSP00000514032.1:n.*171+139C>G
ENST00000698920.1:n.538+139C>G
ENST00000526596.2:c.1238+139C>G MANE Select	ENSP00000433266.2:n.1238+139C>G
ENST00000300737.8:c.1238+139C>G	ENSP00000300737.4:n.1238+139C>G
ENST00000526596.1:c.430+139C>G
ENST00000527651.5:c.1238+139C>G	ENSP00000436208.1:n.1238+139C>G
ENST00000533343.1:n.248+139C>G
ENST00000533977.5:c.719+139C>G	ENSP00000434767.1:n.719+139C>G
ENST00000616714.4:c.1238+139C>G	ENSP00000478059.1:n.1238+139C>G
NM_001277961.1:c.1238+139C>G	NP_001264890.1:n.1238+139C>G
NM_001277962.1:c.1238+139C>G	NP_001264891.1:n.1238+139C>G
NM_003156.3:c.1238+139C>G , LRG_164t1:c.1238+139C>G	NP_003147.2:n.1238+139C>G
NM_001277962.2:c.1238+139C>G	NP_001264891.1:n.1238+139C>G
NM_001277961.3:c.1238+139C>G	NP_001264890.1:n.1238+139C>G
NM_001382566.1:c.1016+139C>G	NP_001369495.1:n.1016+139C>G
NM_001382567.1:c.1238+139C>G MANE Select	NP_001369496.1:n.1238+139C>G
NM_001382568.1:c.1239-121C>G	NP_001369497.1:n.1239-121C>G
NM_001382569.1:c.1103+139C>G	NP_001369498.1:n.1103+139C>G
NM_001382570.1:c.1010+139C>G	NP_001369499.1:n.1010+139C>G
NM_001382571.1:c.758+139C>G	NP_001369500.1:n.758+139C>G
NM_001382573.1:c.1016+139C>G	NP_001369502.1:n.1016+139C>G
NM_001382575.1:c.1016+139C>G	NP_001369504.1:n.1016+139C>G
NM_001382576.1:c.1016+139C>G	NP_001369505.1:n.1016+139C>G
NM_001382577.1:c.1016+139C>G	NP_001369506.1:n.1016+139C>G
NM_001382578.1:c.1016+139C>G	NP_001369507.1:n.1016+139C>G
NM_001382579.1:c.1016+139C>G	NP_001369508.1:n.1016+139C>G
NM_001382580.1:c.749+139C>G	NP_001369509.1:n.749+139C>G
NM_001382581.1:c.749+139C>G	NP_001369510.1:n.749+139C>G
NM_003156.4:c.1238+139C>G	NP_003147.2:n.1238+139C>G
NR_168436.1:n.1399-3356C>G
NR_168437.1:n.1667+139C>G
NR_168438.1:n.1489+139C>G