Canonical Allele Identifier: CA472869739

Gene: STIM1

Linked Data

• ClinVar Variation Id: 1113176
• ClinVar RCV Id: RCV001440485
• dbSNP Id: rs1367856839
• gnomAD v2: 11-4112809-T-C
• gnomAD v3: 11-4091579-T-C
• gnomAD v4: 11-4091579-T-C
• MyVariant Identifiers: chr11:g.4112809T>C (hg19) ; chr11:g.4091579T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091579T>C , CM000673.2:g.4091579T>C	GRCh38
NC_000011.9:g.4112809T>C , CM000673.1:g.4112809T>C	GRCh37
NC_000011.8:g.4069385T>C	NCBI36
NG_016277.1:g.240877T>C , LRG_164:g.240877T>C
NG_027992.2:g.1886T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*253T>C	ENSP00000432210.2:n.*253T>C
ENST00000698910.1:c.1350T>C	ENSP00000514024.1:p.Ser450=
ENST00000698911.1:c.1935T>C	ENSP00000514025.1:p.Ser645=
ENST00000698912.1:c.*253T>C	ENSP00000514026.1:n.*253T>C
ENST00000698913.1:c.1617T>C	ENSP00000514027.1:p.Ser539=
ENST00000698915.1:c.1923T>C	ENSP00000514029.1:p.Ser641=
ENST00000698916.1:c.1860T>C	ENSP00000514030.1:p.Ser620=
ENST00000698918.1:c.*1577T>C	ENSP00000514031.1:n.*1577T>C
ENST00000698919.1:c.*772T>C	ENSP00000514032.1:n.*772T>C
ENST00000698920.1:n.1139T>C
ENST00000526596.2:c.1932T>C MANE Select	ENSP00000433266.2:p.Ser644=
ENST00000300737.8:c.1839T>C	ENSP00000300737.4:p.Ser613=
ENST00000526156.1:n.637T>C
ENST00000526596.1:c.1124T>C
ENST00000527651.5:c.*253T>C	ENSP00000436208.1:n.*253T>C
ENST00000533977.5:c.1320T>C	ENSP00000434767.1:p.Ser440=
ENST00000616714.4:c.2157T>C	ENSP00000478059.1:p.Ser719=
NM_001277961.1:c.2157T>C	NP_001264890.1:p.Ser719=
NM_001277962.1:c.*253T>C	NP_001264891.1:n.*253T>C
NM_003156.3:c.1839T>C , LRG_164t1:c.1839T>C	NP_003147.2:p.Ser613=
NM_001277962.2:c.*253T>C	NP_001264891.1:n.*253T>C
NM_001277961.3:c.2157T>C	NP_001264890.1:p.Ser719=
NM_001382566.1:c.1935T>C	NP_001369495.1:p.Ser645=
NM_001382567.1:c.1932T>C MANE Select	NP_001369496.1:p.Ser644=
NM_001382568.1:c.1860T>C	NP_001369497.1:p.Ser620=
NM_001382569.1:c.1704T>C	NP_001369498.1:p.Ser568=
NM_001382570.1:c.1611T>C	NP_001369499.1:p.Ser537=
NM_001382571.1:c.1359T>C	NP_001369500.1:p.Ser453=
NM_001382575.1:c.1617T>C	NP_001369504.1:p.Ser539=
NM_001382576.1:c.1617T>C	NP_001369505.1:p.Ser539=
NM_001382577.1:c.1617T>C	NP_001369506.1:p.Ser539=
NM_001382578.1:c.*253T>C	NP_001369507.1:n.*253T>C
NM_001382579.1:c.*253T>C	NP_001369508.1:n.*253T>C
NM_001382580.1:c.*253T>C	NP_001369509.1:n.*253T>C
NM_001382581.1:c.1350T>C	NP_001369510.1:p.Ser450=
NM_003156.4:c.1839T>C	NP_003147.2:p.Ser613=
NR_168436.1:n.1763T>C
NR_168437.1:n.2268T>C
NR_168438.1:n.2090T>C