Canonical Allele Identifier: CA379197485

Gene: STIM1

Linked Data

• ClinVar Variation Id: 1470772
• ClinVar RCV Id: RCV001973349
• dbSNP Id: rs771983048
• MyVariant Identifiers: chr11:g.4112786G>C (hg19) ; chr11:g.4091556G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091556G>C , CM000673.2:g.4091556G>C	GRCh38
NC_000011.9:g.4112786G>C , CM000673.1:g.4112786G>C	GRCh37
NC_000011.8:g.4069362G>C	NCBI36
NG_016277.1:g.240854G>C , LRG_164:g.240854G>C
NG_027992.2:g.1863G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*230G>C	ENSP00000432210.2:n.*230G>C
ENST00000698910.1:c.1327G>C	ENSP00000514024.1:p.Gly443Arg
ENST00000698911.1:c.1912G>C	ENSP00000514025.1:p.Gly638Arg
ENST00000698912.1:c.*230G>C	ENSP00000514026.1:n.*230G>C
ENST00000698913.1:c.1594G>C	ENSP00000514027.1:p.Gly532Arg
ENST00000698915.1:c.1900G>C	ENSP00000514029.1:p.Gly634Arg
ENST00000698916.1:c.1837G>C	ENSP00000514030.1:p.Gly613Arg
ENST00000698918.1:c.*1554G>C	ENSP00000514031.1:n.*1554G>C
ENST00000698919.1:c.*749G>C	ENSP00000514032.1:n.*749G>C
ENST00000698920.1:n.1116G>C
ENST00000526596.2:c.1909G>C MANE Select	ENSP00000433266.2:p.Gly637Arg
ENST00000300737.8:c.1816G>C	ENSP00000300737.4:p.Gly606Arg
ENST00000526156.1:n.614G>C
ENST00000526596.1:c.1101G>C
ENST00000527651.5:c.*230G>C	ENSP00000436208.1:n.*230G>C
ENST00000533977.5:c.1297G>C	ENSP00000434767.1:p.Gly433Arg
ENST00000616714.4:c.2134G>C	ENSP00000478059.1:p.Gly712Arg
NM_001277961.1:c.2134G>C	NP_001264890.1:p.Gly712Arg
NM_001277962.1:c.*230G>C	NP_001264891.1:n.*230G>C
NM_003156.3:c.1816G>C , LRG_164t1:c.1816G>C	NP_003147.2:p.Gly606Arg
NM_001277962.2:c.*230G>C	NP_001264891.1:n.*230G>C
NM_001277961.3:c.2134G>C	NP_001264890.1:p.Gly712Arg
NM_001382566.1:c.1912G>C	NP_001369495.1:p.Gly638Arg
NM_001382567.1:c.1909G>C MANE Select	NP_001369496.1:p.Gly637Arg
NM_001382568.1:c.1837G>C	NP_001369497.1:p.Gly613Arg
NM_001382569.1:c.1681G>C	NP_001369498.1:p.Gly561Arg
NM_001382570.1:c.1588G>C	NP_001369499.1:p.Gly530Arg
NM_001382571.1:c.1336G>C	NP_001369500.1:p.Gly446Arg
NM_001382575.1:c.1594G>C	NP_001369504.1:p.Gly532Arg
NM_001382576.1:c.1594G>C	NP_001369505.1:p.Gly532Arg
NM_001382577.1:c.1594G>C	NP_001369506.1:p.Gly532Arg
NM_001382578.1:c.*230G>C	NP_001369507.1:n.*230G>C
NM_001382579.1:c.*230G>C	NP_001369508.1:n.*230G>C
NM_001382580.1:c.*230G>C	NP_001369509.1:n.*230G>C
NM_001382581.1:c.1327G>C	NP_001369510.1:p.Gly443Arg
NM_003156.4:c.1816G>C	NP_003147.2:p.Gly606Arg
NR_168436.1:n.1740G>C
NR_168437.1:n.2245G>C
NR_168438.1:n.2067G>C