Canonical Allele Identifier: CA472869701

Gene: STIM1

Linked Data

• MyVariant Identifiers: chr11:g.4112758G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091528G>C , CM000673.2:g.4091528G>C	GRCh38
NC_000011.9:g.4112758G>C , CM000673.1:g.4112758G>C	GRCh37
NC_000011.8:g.4069334G>C	NCBI36
NG_016277.1:g.240826G>C , LRG_164:g.240826G>C
NG_027992.2:g.1835G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*202G>C	ENSP00000432210.2:n.*202G>C
ENST00000698910.1:c.1299G>C	ENSP00000514024.1:p.Leu433=
ENST00000698911.1:c.1884G>C	ENSP00000514025.1:p.Leu628=
ENST00000698912.1:c.*202G>C	ENSP00000514026.1:n.*202G>C
ENST00000698913.1:c.1566G>C	ENSP00000514027.1:p.Leu522=
ENST00000698915.1:c.1872G>C	ENSP00000514029.1:p.Leu624=
ENST00000698916.1:c.1809G>C	ENSP00000514030.1:p.Leu603=
ENST00000698918.1:c.*1526G>C	ENSP00000514031.1:n.*1526G>C
ENST00000698919.1:c.*721G>C	ENSP00000514032.1:n.*721G>C
ENST00000698920.1:n.1088G>C
ENST00000526596.2:c.1881G>C MANE Select	ENSP00000433266.2:p.Leu627=
ENST00000300737.8:c.1788G>C	ENSP00000300737.4:p.Leu596=
ENST00000526156.1:n.586G>C
ENST00000526596.1:c.1073G>C
ENST00000527651.5:c.*202G>C	ENSP00000436208.1:n.*202G>C
ENST00000533977.5:c.1269G>C	ENSP00000434767.1:p.Leu423=
ENST00000616714.4:c.2106G>C	ENSP00000478059.1:p.Leu702=
NM_001277961.1:c.2106G>C	NP_001264890.1:p.Leu702=
NM_001277962.1:c.*202G>C	NP_001264891.1:n.*202G>C
NM_003156.3:c.1788G>C , LRG_164t1:c.1788G>C	NP_003147.2:p.Leu596=
NM_001277962.2:c.*202G>C	NP_001264891.1:n.*202G>C
NM_001277961.3:c.2106G>C	NP_001264890.1:p.Leu702=
NM_001382566.1:c.1884G>C	NP_001369495.1:p.Leu628=
NM_001382567.1:c.1881G>C MANE Select	NP_001369496.1:p.Leu627=
NM_001382568.1:c.1809G>C	NP_001369497.1:p.Leu603=
NM_001382569.1:c.1653G>C	NP_001369498.1:p.Leu551=
NM_001382570.1:c.1560G>C	NP_001369499.1:p.Leu520=
NM_001382571.1:c.1308G>C	NP_001369500.1:p.Leu436=
NM_001382575.1:c.1566G>C	NP_001369504.1:p.Leu522=
NM_001382576.1:c.1566G>C	NP_001369505.1:p.Leu522=
NM_001382577.1:c.1566G>C	NP_001369506.1:p.Leu522=
NM_001382578.1:c.*202G>C	NP_001369507.1:n.*202G>C
NM_001382579.1:c.*202G>C	NP_001369508.1:n.*202G>C
NM_001382580.1:c.*202G>C	NP_001369509.1:n.*202G>C
NM_001382581.1:c.1299G>C	NP_001369510.1:p.Leu433=
NM_003156.4:c.1788G>C	NP_003147.2:p.Leu596=
NR_168436.1:n.1712G>C
NR_168437.1:n.2217G>C
NR_168438.1:n.2039G>C