Canonical Allele Identifier: CA472869696
Gene: STIM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.4112749C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4091519C>G , CM000673.2:g.4091519C>G GRCh38
NC_000011.9:g.4112749C>G , CM000673.1:g.4112749C>G GRCh37
NC_000011.8:g.4069325C>G NCBI36
NG_016277.1:g.240817C>G , LRG_164:g.240817C>G
NG_027992.2:g.1826C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525403.6:c.*193C>G ENSP00000432210.2:n.*193C>G
ENST00000698910.1:c.1290C>G ENSP00000514024.1:p.Ala430=
ENST00000698911.1:c.1875C>G ENSP00000514025.1:p.Ala625=
ENST00000698912.1:c.*193C>G ENSP00000514026.1:n.*193C>G
ENST00000698913.1:c.1557C>G ENSP00000514027.1:p.Ala519=
ENST00000698915.1:c.1863C>G ENSP00000514029.1:p.Ala621=
ENST00000698916.1:c.1800C>G ENSP00000514030.1:p.Ala600=
ENST00000698918.1:c.*1517C>G ENSP00000514031.1:n.*1517C>G
ENST00000698919.1:c.*712C>G ENSP00000514032.1:n.*712C>G
ENST00000698920.1:n.1079C>G
ENST00000526596.2:c.1872C>G MANE Select ENSP00000433266.2:p.Ala624=
ENST00000300737.8:c.1779C>G ENSP00000300737.4:p.Ala593=
ENST00000526156.1:n.577C>G
ENST00000526596.1:c.1064C>G
ENST00000527651.5:c.*193C>G ENSP00000436208.1:n.*193C>G
ENST00000533977.5:c.1260C>G ENSP00000434767.1:p.Ala420=
ENST00000616714.4:c.2097C>G ENSP00000478059.1:p.Ala699=
NM_001277961.1:c.2097C>G NP_001264890.1:p.Ala699=
NM_001277962.1:c.*193C>G NP_001264891.1:n.*193C>G
NM_003156.3:c.1779C>G , LRG_164t1:c.1779C>G NP_003147.2:p.Ala593=
NM_001277962.2:c.*193C>G NP_001264891.1:n.*193C>G
NM_001277961.3:c.2097C>G NP_001264890.1:p.Ala699=
NM_001382566.1:c.1875C>G NP_001369495.1:p.Ala625=
NM_001382567.1:c.1872C>G MANE Select NP_001369496.1:p.Ala624=
NM_001382568.1:c.1800C>G NP_001369497.1:p.Ala600=
NM_001382569.1:c.1644C>G NP_001369498.1:p.Ala548=
NM_001382570.1:c.1551C>G NP_001369499.1:p.Ala517=
NM_001382571.1:c.1299C>G NP_001369500.1:p.Ala433=
NM_001382575.1:c.1557C>G NP_001369504.1:p.Ala519=
NM_001382576.1:c.1557C>G NP_001369505.1:p.Ala519=
NM_001382577.1:c.1557C>G NP_001369506.1:p.Ala519=
NM_001382578.1:c.*193C>G NP_001369507.1:n.*193C>G
NM_001382579.1:c.*193C>G NP_001369508.1:n.*193C>G
NM_001382580.1:c.*193C>G NP_001369509.1:n.*193C>G
NM_001382581.1:c.1290C>G NP_001369510.1:p.Ala430=
NM_003156.4:c.1779C>G NP_003147.2:p.Ala593=
NR_168436.1:n.1703C>G
NR_168437.1:n.2208C>G
NR_168438.1:n.2030C>G