Canonical Allele Identifier: CA379197567

Gene: STIM1

Linked Data

• MyVariant Identifiers: chr11:g.4112801T>G (hg19) ; chr11:g.4091571T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091571T>G , CM000673.2:g.4091571T>G	GRCh38
NC_000011.9:g.4112801T>G , CM000673.1:g.4112801T>G	GRCh37
NC_000011.8:g.4069377T>G	NCBI36
NG_016277.1:g.240869T>G , LRG_164:g.240869T>G
NG_027992.2:g.1878T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*245T>G	ENSP00000432210.2:n.*245T>G
ENST00000698910.1:c.1342T>G	ENSP00000514024.1:p.Leu448Val
ENST00000698911.1:c.1927T>G	ENSP00000514025.1:p.Leu643Val
ENST00000698912.1:c.*245T>G	ENSP00000514026.1:n.*245T>G
ENST00000698913.1:c.1609T>G	ENSP00000514027.1:p.Leu537Val
ENST00000698915.1:c.1915T>G	ENSP00000514029.1:p.Leu639Val
ENST00000698916.1:c.1852T>G	ENSP00000514030.1:p.Leu618Val
ENST00000698918.1:c.*1569T>G	ENSP00000514031.1:n.*1569T>G
ENST00000698919.1:c.*764T>G	ENSP00000514032.1:n.*764T>G
ENST00000698920.1:n.1131T>G
ENST00000526596.2:c.1924T>G MANE Select	ENSP00000433266.2:p.Leu642Val
ENST00000300737.8:c.1831T>G	ENSP00000300737.4:p.Leu611Val
ENST00000526156.1:n.629T>G
ENST00000526596.1:c.1116T>G
ENST00000527651.5:c.*245T>G	ENSP00000436208.1:n.*245T>G
ENST00000533977.5:c.1312T>G	ENSP00000434767.1:p.Leu438Val
ENST00000616714.4:c.2149T>G	ENSP00000478059.1:p.Leu717Val
NM_001277961.1:c.2149T>G	NP_001264890.1:p.Leu717Val
NM_001277962.1:c.*245T>G	NP_001264891.1:n.*245T>G
NM_003156.3:c.1831T>G , LRG_164t1:c.1831T>G	NP_003147.2:p.Leu611Val
NM_001277962.2:c.*245T>G	NP_001264891.1:n.*245T>G
NM_001277961.3:c.2149T>G	NP_001264890.1:p.Leu717Val
NM_001382566.1:c.1927T>G	NP_001369495.1:p.Leu643Val
NM_001382567.1:c.1924T>G MANE Select	NP_001369496.1:p.Leu642Val
NM_001382568.1:c.1852T>G	NP_001369497.1:p.Leu618Val
NM_001382569.1:c.1696T>G	NP_001369498.1:p.Leu566Val
NM_001382570.1:c.1603T>G	NP_001369499.1:p.Leu535Val
NM_001382571.1:c.1351T>G	NP_001369500.1:p.Leu451Val
NM_001382575.1:c.1609T>G	NP_001369504.1:p.Leu537Val
NM_001382576.1:c.1609T>G	NP_001369505.1:p.Leu537Val
NM_001382577.1:c.1609T>G	NP_001369506.1:p.Leu537Val
NM_001382578.1:c.*245T>G	NP_001369507.1:n.*245T>G
NM_001382579.1:c.*245T>G	NP_001369508.1:n.*245T>G
NM_001382580.1:c.*245T>G	NP_001369509.1:n.*245T>G
NM_001382581.1:c.1342T>G	NP_001369510.1:p.Leu448Val
NM_003156.4:c.1831T>G	NP_003147.2:p.Leu611Val
NR_168436.1:n.1755T>G
NR_168437.1:n.2260T>G
NR_168438.1:n.2082T>G