Canonical Allele Identifier: CA379197457

Gene: STIM1

Linked Data

• gnomAD v4: 11-4091547-G-A
• MyVariant Identifiers: chr11:g.4112777G>A (hg19) ; chr11:g.4091547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091547G>A , CM000673.2:g.4091547G>A	GRCh38
NC_000011.9:g.4112777G>A , CM000673.1:g.4112777G>A	GRCh37
NC_000011.8:g.4069353G>A	NCBI36
NG_016277.1:g.240845G>A , LRG_164:g.240845G>A
NG_027992.2:g.1854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*221G>A	ENSP00000432210.2:n.*221G>A
ENST00000698910.1:c.1318G>A	ENSP00000514024.1:p.Ala440Thr
ENST00000698911.1:c.1903G>A	ENSP00000514025.1:p.Ala635Thr
ENST00000698912.1:c.*221G>A	ENSP00000514026.1:n.*221G>A
ENST00000698913.1:c.1585G>A	ENSP00000514027.1:p.Ala529Thr
ENST00000698915.1:c.1891G>A	ENSP00000514029.1:p.Ala631Thr
ENST00000698916.1:c.1828G>A	ENSP00000514030.1:p.Ala610Thr
ENST00000698918.1:c.*1545G>A	ENSP00000514031.1:n.*1545G>A
ENST00000698919.1:c.*740G>A	ENSP00000514032.1:n.*740G>A
ENST00000698920.1:n.1107G>A
ENST00000526596.2:c.1900G>A MANE Select	ENSP00000433266.2:p.Ala634Thr
ENST00000300737.8:c.1807G>A	ENSP00000300737.4:p.Ala603Thr
ENST00000526156.1:n.605G>A
ENST00000526596.1:c.1092G>A
ENST00000527651.5:c.*221G>A	ENSP00000436208.1:n.*221G>A
ENST00000533977.5:c.1288G>A	ENSP00000434767.1:p.Ala430Thr
ENST00000616714.4:c.2125G>A	ENSP00000478059.1:p.Ala709Thr
NM_001277961.1:c.2125G>A	NP_001264890.1:p.Ala709Thr
NM_001277962.1:c.*221G>A	NP_001264891.1:n.*221G>A
NM_003156.3:c.1807G>A , LRG_164t1:c.1807G>A	NP_003147.2:p.Ala603Thr
NM_001277962.2:c.*221G>A	NP_001264891.1:n.*221G>A
NM_001277961.3:c.2125G>A	NP_001264890.1:p.Ala709Thr
NM_001382566.1:c.1903G>A	NP_001369495.1:p.Ala635Thr
NM_001382567.1:c.1900G>A MANE Select	NP_001369496.1:p.Ala634Thr
NM_001382568.1:c.1828G>A	NP_001369497.1:p.Ala610Thr
NM_001382569.1:c.1672G>A	NP_001369498.1:p.Ala558Thr
NM_001382570.1:c.1579G>A	NP_001369499.1:p.Ala527Thr
NM_001382571.1:c.1327G>A	NP_001369500.1:p.Ala443Thr
NM_001382575.1:c.1585G>A	NP_001369504.1:p.Ala529Thr
NM_001382576.1:c.1585G>A	NP_001369505.1:p.Ala529Thr
NM_001382577.1:c.1585G>A	NP_001369506.1:p.Ala529Thr
NM_001382578.1:c.*221G>A	NP_001369507.1:n.*221G>A
NM_001382579.1:c.*221G>A	NP_001369508.1:n.*221G>A
NM_001382580.1:c.*221G>A	NP_001369509.1:n.*221G>A
NM_001382581.1:c.1318G>A	NP_001369510.1:p.Ala440Thr
NM_003156.4:c.1807G>A	NP_003147.2:p.Ala603Thr
NR_168436.1:n.1731G>A
NR_168437.1:n.2236G>A
NR_168438.1:n.2058G>A