Canonical Allele Identifier: CA379197386

Gene: STIM1

Linked Data

• ClinVar Variation Id: 2954231
• ClinVar RCV Id: RCV003813454
• MyVariant Identifiers: chr11:g.4112759A>G (hg19) ; chr11:g.4091529A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091529A>G , CM000673.2:g.4091529A>G	GRCh38
NC_000011.9:g.4112759A>G , CM000673.1:g.4112759A>G	GRCh37
NC_000011.8:g.4069335A>G	NCBI36
NG_016277.1:g.240827A>G , LRG_164:g.240827A>G
NG_027992.2:g.1836A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*203A>G	ENSP00000432210.2:n.*203A>G
ENST00000698910.1:c.1300A>G	ENSP00000514024.1:p.Met434Val
ENST00000698911.1:c.1885A>G	ENSP00000514025.1:p.Met629Val
ENST00000698912.1:c.*203A>G	ENSP00000514026.1:n.*203A>G
ENST00000698913.1:c.1567A>G	ENSP00000514027.1:p.Met523Val
ENST00000698915.1:c.1873A>G	ENSP00000514029.1:p.Met625Val
ENST00000698916.1:c.1810A>G	ENSP00000514030.1:p.Met604Val
ENST00000698918.1:c.*1527A>G	ENSP00000514031.1:n.*1527A>G
ENST00000698919.1:c.*722A>G	ENSP00000514032.1:n.*722A>G
ENST00000698920.1:n.1089A>G
ENST00000526596.2:c.1882A>G MANE Select	ENSP00000433266.2:p.Met628Val
ENST00000300737.8:c.1789A>G	ENSP00000300737.4:p.Met597Val
ENST00000526156.1:n.587A>G
ENST00000526596.1:c.1074A>G
ENST00000527651.5:c.*203A>G	ENSP00000436208.1:n.*203A>G
ENST00000533977.5:c.1270A>G	ENSP00000434767.1:p.Met424Val
ENST00000616714.4:c.2107A>G	ENSP00000478059.1:p.Met703Val
NM_001277961.1:c.2107A>G	NP_001264890.1:p.Met703Val
NM_001277962.1:c.*203A>G	NP_001264891.1:n.*203A>G
NM_003156.3:c.1789A>G , LRG_164t1:c.1789A>G	NP_003147.2:p.Met597Val
NM_001277962.2:c.*203A>G	NP_001264891.1:n.*203A>G
NM_001277961.3:c.2107A>G	NP_001264890.1:p.Met703Val
NM_001382566.1:c.1885A>G	NP_001369495.1:p.Met629Val
NM_001382567.1:c.1882A>G MANE Select	NP_001369496.1:p.Met628Val
NM_001382568.1:c.1810A>G	NP_001369497.1:p.Met604Val
NM_001382569.1:c.1654A>G	NP_001369498.1:p.Met552Val
NM_001382570.1:c.1561A>G	NP_001369499.1:p.Met521Val
NM_001382571.1:c.1309A>G	NP_001369500.1:p.Met437Val
NM_001382575.1:c.1567A>G	NP_001369504.1:p.Met523Val
NM_001382576.1:c.1567A>G	NP_001369505.1:p.Met523Val
NM_001382577.1:c.1567A>G	NP_001369506.1:p.Met523Val
NM_001382578.1:c.*203A>G	NP_001369507.1:n.*203A>G
NM_001382579.1:c.*203A>G	NP_001369508.1:n.*203A>G
NM_001382580.1:c.*203A>G	NP_001369509.1:n.*203A>G
NM_001382581.1:c.1300A>G	NP_001369510.1:p.Met434Val
NM_003156.4:c.1789A>G	NP_003147.2:p.Met597Val
NR_168436.1:n.1713A>G
NR_168437.1:n.2218A>G
NR_168438.1:n.2040A>G