Canonical Allele Identifier: CA472549642

Gene: STIM1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091696T>C , CM000673.2:g.4091696T>C	GRCh38
NC_000011.9:g.4112926T>C , CM000673.1:g.4112926T>C	GRCh37
NC_000011.8:g.4069502T>C	NCBI36
NG_016277.1:g.240994T>C , LRG_164:g.240994T>C
NG_027992.2:g.2003T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001382567.1:c.2049T>C MANE Select	NP_001369496.1:p.Ala683=
ENST00000526596.2:c.2049T>C MANE Select	ENSP00000433266.2:p.Ala683=
NM_001277961.1:c.2274T>C	NP_001264890.1:p.Ala758=
NM_001277961.3:c.2274T>C	NP_001264890.1:p.Ala758=
NM_001277962.1:c.*370T>C	NP_001264891.1:n.*370T>C
NM_001277962.2:c.*370T>C	NP_001264891.1:n.*370T>C
NM_001382566.1:c.2052T>C	NP_001369495.1:p.Ala684=
NM_001382568.1:c.1977T>C	NP_001369497.1:p.Ala659=
NM_001382569.1:c.1821T>C	NP_001369498.1:p.Ala607=
NM_001382570.1:c.1728T>C	NP_001369499.1:p.Ala576=
NM_001382571.1:c.1476T>C	NP_001369500.1:p.Ala492=
NM_001382575.1:c.1734T>C	NP_001369504.1:p.Ala578=
NM_001382576.1:c.1734T>C	NP_001369505.1:p.Ala578=
NM_001382577.1:c.1734T>C	NP_001369506.1:p.Ala578=
NM_001382578.1:c.*370T>C	NP_001369507.1:n.*370T>C
NM_001382579.1:c.*370T>C	NP_001369508.1:n.*370T>C
NM_001382580.1:c.*370T>C	NP_001369509.1:n.*370T>C
NM_001382581.1:c.1467T>C	NP_001369510.1:p.Ala489=
NM_003156.3:c.1956T>C , LRG_164t1:c.1956T>C	NP_003147.2:p.Ala652=
NM_003156.4:c.1956T>C	NP_003147.2:p.Ala652=
NR_168436.1:n.1880T>C
NR_168437.1:n.2385T>C
NR_168438.1:n.2207T>C
ENST00000300737.8:c.1956T>C	ENSP00000300737.4:p.Ala652=
ENST00000525403.6:c.*370T>C	ENSP00000432210.2:n.*370T>C
ENST00000526156.1:n.754T>C
ENST00000527651.5:c.*370T>C	ENSP00000436208.1:n.*370T>C
ENST00000533977.5:c.1437T>C	ENSP00000434767.1:p.Ala479=
ENST00000616714.4:c.2274T>C	ENSP00000478059.1:p.Ala758=
ENST00000698910.1:c.1467T>C	ENSP00000514024.1:p.Ala489=
ENST00000698911.1:c.2052T>C	ENSP00000514025.1:p.Ala684=
ENST00000698912.1:c.*370T>C	ENSP00000514026.1:n.*370T>C
ENST00000698913.1:c.1734T>C	ENSP00000514027.1:p.Ala578=
ENST00000698915.1:c.2040T>C	ENSP00000514029.1:p.Ala680=
ENST00000698916.1:c.1977T>C	ENSP00000514030.1:p.Ala659=
ENST00000698918.1:c.*1694T>C	ENSP00000514031.1:n.*1694T>C
ENST00000698919.1:c.*889T>C	ENSP00000514032.1:n.*889T>C
ENST00000698920.1:n.1256T>C