Canonical Allele Identifier: CA5830473

Gene: STIM1

Linked Data

• dbSNP Id: rs780512774
• ExAC: 11:4104723 T / C
• gnomAD v2: 11-4104723-T-C
• gnomAD v3: 11-4083493-T-C
• gnomAD v4: 11-4083493-T-C
• MyVariant Identifiers: chr11:g.4104723T>C (hg19) ; chr11:g.4083493T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083493T>C , CM000673.2:g.4083493T>C	GRCh38
NC_000011.9:g.4104723T>C , CM000673.1:g.4104723T>C	GRCh37
NC_000011.8:g.4061299T>C	NCBI36
NG_016277.1:g.232791T>C , LRG_164:g.232791T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.1247T>C	ENSP00000432210.2:p.Met416Thr
ENST00000533343.2:n.2068T>C
ENST00000698909.1:n.2326T>C
ENST00000698910.1:c.980T>C	ENSP00000514024.1:p.Met327Thr
ENST00000698911.1:c.1247T>C	ENSP00000514025.1:p.Met416Thr
ENST00000698912.1:c.1247T>C	ENSP00000514026.1:p.Met416Thr
ENST00000698913.1:c.1247T>C	ENSP00000514027.1:p.Met416Thr
ENST00000698915.1:c.1469T>C	ENSP00000514029.1:p.Met490Thr
ENST00000698916.1:c.1490T>C	ENSP00000514030.1:p.Met497Thr
ENST00000698918.1:c.*1170T>C	ENSP00000514031.1:n.*1170T>C
ENST00000698919.1:c.*402T>C	ENSP00000514032.1:n.*402T>C
ENST00000698920.1:n.769T>C
ENST00000526596.2:c.1469T>C MANE Select	ENSP00000433266.2:p.Met490Thr
ENST00000300737.8:c.1469T>C	ENSP00000300737.4:p.Met490Thr
ENST00000526596.1:c.661T>C
ENST00000527651.5:c.1469T>C	ENSP00000436208.1:p.Met490Thr
ENST00000531332.1:n.337T>C
ENST00000533343.1:n.479T>C
ENST00000533977.5:c.950T>C	ENSP00000434767.1:p.Met317Thr
ENST00000616714.4:c.1469T>C	ENSP00000478059.1:p.Met490Thr
NM_001277961.1:c.1469T>C	NP_001264890.1:p.Met490Thr
NM_001277962.1:c.1469T>C	NP_001264891.1:p.Met490Thr
NM_003156.3:c.1469T>C , LRG_164t1:c.1469T>C	NP_003147.2:p.Met490Thr
NM_001277962.2:c.1469T>C	NP_001264891.1:p.Met490Thr
NM_001277961.3:c.1469T>C	NP_001264890.1:p.Met490Thr
NM_001382566.1:c.1247T>C	NP_001369495.1:p.Met416Thr
NM_001382567.1:c.1469T>C MANE Select	NP_001369496.1:p.Met490Thr
NM_001382568.1:c.1490T>C	NP_001369497.1:p.Met497Thr
NM_001382569.1:c.1334T>C	NP_001369498.1:p.Met445Thr
NM_001382570.1:c.1241T>C	NP_001369499.1:p.Met414Thr
NM_001382571.1:c.989T>C	NP_001369500.1:p.Met330Thr
NM_001382573.1:c.1247T>C	NP_001369502.1:p.Met416Thr
NM_001382575.1:c.1247T>C	NP_001369504.1:p.Met416Thr
NM_001382576.1:c.1247T>C	NP_001369505.1:p.Met416Thr
NM_001382577.1:c.1247T>C	NP_001369506.1:p.Met416Thr
NM_001382578.1:c.1247T>C	NP_001369507.1:p.Met416Thr
NM_001382579.1:c.1247T>C	NP_001369508.1:p.Met416Thr
NM_001382580.1:c.980T>C	NP_001369509.1:p.Met327Thr
NM_001382581.1:c.980T>C	NP_001369510.1:p.Met327Thr
NM_003156.4:c.1469T>C	NP_003147.2:p.Met490Thr
NR_168436.1:n.1399-2984T>C
NR_168437.1:n.1898T>C
NR_168438.1:n.1720T>C