Canonical Allele Identifier: CA379197264

Gene: STIM1

Linked Data

• MyVariant Identifiers: chr11:g.4112729A>C (hg19) ; chr11:g.4091499A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091499A>C , CM000673.2:g.4091499A>C	GRCh38
NC_000011.9:g.4112729A>C , CM000673.1:g.4112729A>C	GRCh37
NC_000011.8:g.4069305A>C	NCBI36
NG_016277.1:g.240797A>C , LRG_164:g.240797A>C
NG_027992.2:g.1806A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*173A>C	ENSP00000432210.2:n.*173A>C
ENST00000698910.1:c.1270A>C	ENSP00000514024.1:p.Asn424His
ENST00000698911.1:c.1855A>C	ENSP00000514025.1:p.Asn619His
ENST00000698912.1:c.*173A>C	ENSP00000514026.1:n.*173A>C
ENST00000698913.1:c.1537A>C	ENSP00000514027.1:p.Asn513His
ENST00000698915.1:c.1843A>C	ENSP00000514029.1:p.Asn615His
ENST00000698916.1:c.1780A>C	ENSP00000514030.1:p.Asn594His
ENST00000698918.1:c.*1497A>C	ENSP00000514031.1:n.*1497A>C
ENST00000698919.1:c.*692A>C	ENSP00000514032.1:n.*692A>C
ENST00000698920.1:n.1059A>C
ENST00000526596.2:c.1852A>C MANE Select	ENSP00000433266.2:p.Asn618His
ENST00000300737.8:c.1759A>C	ENSP00000300737.4:p.Asn587His
ENST00000526156.1:n.557A>C
ENST00000526596.1:c.1044A>C
ENST00000527651.5:c.*173A>C	ENSP00000436208.1:n.*173A>C
ENST00000533977.5:c.1240A>C	ENSP00000434767.1:p.Asn414His
ENST00000616714.4:c.2077A>C	ENSP00000478059.1:p.Asn693His
NM_001277961.1:c.2077A>C	NP_001264890.1:p.Asn693His
NM_001277962.1:c.*173A>C	NP_001264891.1:n.*173A>C
NM_003156.3:c.1759A>C , LRG_164t1:c.1759A>C	NP_003147.2:p.Asn587His
NM_001277962.2:c.*173A>C	NP_001264891.1:n.*173A>C
NM_001277961.3:c.2077A>C	NP_001264890.1:p.Asn693His
NM_001382566.1:c.1855A>C	NP_001369495.1:p.Asn619His
NM_001382567.1:c.1852A>C MANE Select	NP_001369496.1:p.Asn618His
NM_001382568.1:c.1780A>C	NP_001369497.1:p.Asn594His
NM_001382569.1:c.1624A>C	NP_001369498.1:p.Asn542His
NM_001382570.1:c.1531A>C	NP_001369499.1:p.Asn511His
NM_001382571.1:c.1279A>C	NP_001369500.1:p.Asn427His
NM_001382575.1:c.1537A>C	NP_001369504.1:p.Asn513His
NM_001382576.1:c.1537A>C	NP_001369505.1:p.Asn513His
NM_001382577.1:c.1537A>C	NP_001369506.1:p.Asn513His
NM_001382578.1:c.*173A>C	NP_001369507.1:n.*173A>C
NM_001382579.1:c.*173A>C	NP_001369508.1:n.*173A>C
NM_001382580.1:c.*173A>C	NP_001369509.1:n.*173A>C
NM_001382581.1:c.1270A>C	NP_001369510.1:p.Asn424His
NM_003156.4:c.1759A>C	NP_003147.2:p.Asn587His
NR_168436.1:n.1683A>C
NR_168437.1:n.2188A>C
NR_168438.1:n.2010A>C