Canonical Allele Identifier: CA379197306

Gene: STIM1

Linked Data

• MyVariant Identifiers: chr11:g.4112738C>G (hg19) ; chr11:g.4091508C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091508C>G , CM000673.2:g.4091508C>G	GRCh38
NC_000011.9:g.4112738C>G , CM000673.1:g.4112738C>G	GRCh37
NC_000011.8:g.4069314C>G	NCBI36
NG_016277.1:g.240806C>G , LRG_164:g.240806C>G
NG_027992.2:g.1815C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*182C>G	ENSP00000432210.2:n.*182C>G
ENST00000698910.1:c.1279C>G	ENSP00000514024.1:p.Leu427Val
ENST00000698911.1:c.1864C>G	ENSP00000514025.1:p.Leu622Val
ENST00000698912.1:c.*182C>G	ENSP00000514026.1:n.*182C>G
ENST00000698913.1:c.1546C>G	ENSP00000514027.1:p.Leu516Val
ENST00000698915.1:c.1852C>G	ENSP00000514029.1:p.Leu618Val
ENST00000698916.1:c.1789C>G	ENSP00000514030.1:p.Leu597Val
ENST00000698918.1:c.*1506C>G	ENSP00000514031.1:n.*1506C>G
ENST00000698919.1:c.*701C>G	ENSP00000514032.1:n.*701C>G
ENST00000698920.1:n.1068C>G
ENST00000526596.2:c.1861C>G MANE Select	ENSP00000433266.2:p.Leu621Val
ENST00000300737.8:c.1768C>G	ENSP00000300737.4:p.Leu590Val
ENST00000526156.1:n.566C>G
ENST00000526596.1:c.1053C>G
ENST00000527651.5:c.*182C>G	ENSP00000436208.1:n.*182C>G
ENST00000533977.5:c.1249C>G	ENSP00000434767.1:p.Leu417Val
ENST00000616714.4:c.2086C>G	ENSP00000478059.1:p.Leu696Val
NM_001277961.1:c.2086C>G	NP_001264890.1:p.Leu696Val
NM_001277962.1:c.*182C>G	NP_001264891.1:n.*182C>G
NM_003156.3:c.1768C>G , LRG_164t1:c.1768C>G	NP_003147.2:p.Leu590Val
NM_001277962.2:c.*182C>G	NP_001264891.1:n.*182C>G
NM_001277961.3:c.2086C>G	NP_001264890.1:p.Leu696Val
NM_001382566.1:c.1864C>G	NP_001369495.1:p.Leu622Val
NM_001382567.1:c.1861C>G MANE Select	NP_001369496.1:p.Leu621Val
NM_001382568.1:c.1789C>G	NP_001369497.1:p.Leu597Val
NM_001382569.1:c.1633C>G	NP_001369498.1:p.Leu545Val
NM_001382570.1:c.1540C>G	NP_001369499.1:p.Leu514Val
NM_001382571.1:c.1288C>G	NP_001369500.1:p.Leu430Val
NM_001382575.1:c.1546C>G	NP_001369504.1:p.Leu516Val
NM_001382576.1:c.1546C>G	NP_001369505.1:p.Leu516Val
NM_001382577.1:c.1546C>G	NP_001369506.1:p.Leu516Val
NM_001382578.1:c.*182C>G	NP_001369507.1:n.*182C>G
NM_001382579.1:c.*182C>G	NP_001369508.1:n.*182C>G
NM_001382580.1:c.*182C>G	NP_001369509.1:n.*182C>G
NM_001382581.1:c.1279C>G	NP_001369510.1:p.Leu427Val
NM_003156.4:c.1768C>G	NP_003147.2:p.Leu590Val
NR_168436.1:n.1692C>G
NR_168437.1:n.2197C>G
NR_168438.1:n.2019C>G