Canonical Allele Identifier: CA379197213

Gene: STIM1

Linked Data

• MyVariant Identifiers: chr11:g.4112717T>G (hg19) ; chr11:g.4091487T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091487T>G , CM000673.2:g.4091487T>G	GRCh38
NC_000011.9:g.4112717T>G , CM000673.1:g.4112717T>G	GRCh37
NC_000011.8:g.4069293T>G	NCBI36
NG_016277.1:g.240785T>G , LRG_164:g.240785T>G
NG_027992.2:g.1794T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*161T>G	ENSP00000432210.2:n.*161T>G
ENST00000698910.1:c.1258T>G	ENSP00000514024.1:p.Leu420Val
ENST00000698911.1:c.1843T>G	ENSP00000514025.1:p.Leu615Val
ENST00000698912.1:c.*161T>G	ENSP00000514026.1:n.*161T>G
ENST00000698913.1:c.1525T>G	ENSP00000514027.1:p.Leu509Val
ENST00000698915.1:c.1831T>G	ENSP00000514029.1:p.Leu611Val
ENST00000698916.1:c.1768T>G	ENSP00000514030.1:p.Leu590Val
ENST00000698918.1:c.*1485T>G	ENSP00000514031.1:n.*1485T>G
ENST00000698919.1:c.*680T>G	ENSP00000514032.1:n.*680T>G
ENST00000698920.1:n.1047T>G
ENST00000526596.2:c.1840T>G MANE Select	ENSP00000433266.2:p.Leu614Val
ENST00000300737.8:c.1747T>G	ENSP00000300737.4:p.Leu583Val
ENST00000526156.1:n.545T>G
ENST00000526596.1:c.1032T>G
ENST00000527651.5:c.*161T>G	ENSP00000436208.1:n.*161T>G
ENST00000533977.5:c.1228T>G	ENSP00000434767.1:p.Leu410Val
ENST00000616714.4:c.2065T>G	ENSP00000478059.1:p.Leu689Val
NM_001277961.1:c.2065T>G	NP_001264890.1:p.Leu689Val
NM_001277962.1:c.*161T>G	NP_001264891.1:n.*161T>G
NM_003156.3:c.1747T>G , LRG_164t1:c.1747T>G	NP_003147.2:p.Leu583Val
NM_001277962.2:c.*161T>G	NP_001264891.1:n.*161T>G
NM_001277961.3:c.2065T>G	NP_001264890.1:p.Leu689Val
NM_001382566.1:c.1843T>G	NP_001369495.1:p.Leu615Val
NM_001382567.1:c.1840T>G MANE Select	NP_001369496.1:p.Leu614Val
NM_001382568.1:c.1768T>G	NP_001369497.1:p.Leu590Val
NM_001382569.1:c.1612T>G	NP_001369498.1:p.Leu538Val
NM_001382570.1:c.1519T>G	NP_001369499.1:p.Leu507Val
NM_001382571.1:c.1267T>G	NP_001369500.1:p.Leu423Val
NM_001382575.1:c.1525T>G	NP_001369504.1:p.Leu509Val
NM_001382576.1:c.1525T>G	NP_001369505.1:p.Leu509Val
NM_001382577.1:c.1525T>G	NP_001369506.1:p.Leu509Val
NM_001382578.1:c.*161T>G	NP_001369507.1:n.*161T>G
NM_001382579.1:c.*161T>G	NP_001369508.1:n.*161T>G
NM_001382580.1:c.*161T>G	NP_001369509.1:n.*161T>G
NM_001382581.1:c.1258T>G	NP_001369510.1:p.Leu420Val
NM_003156.4:c.1747T>G	NP_003147.2:p.Leu583Val
NR_168436.1:n.1671T>G
NR_168437.1:n.2176T>G
NR_168438.1:n.1998T>G