Canonical Allele Identifier: CA379197366
Gene: STIM1 HGNC NCBI

Linked Data

dbSNP Id: rs2094525134
gnomAD v4: 11-4091523-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4091523A>G , CM000673.2:g.4091523A>G GRCh38
NC_000011.9:g.4112753A>G , CM000673.1:g.4112753A>G GRCh37
NC_000011.8:g.4069329A>G NCBI36
NG_016277.1:g.240821A>G , LRG_164:g.240821A>G
NG_027992.2:g.1830A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525403.6:c.*197A>G ENSP00000432210.2:n.*197A>G
ENST00000698910.1:c.1294A>G ENSP00000514024.1:p.Ser432Gly
ENST00000698911.1:c.1879A>G ENSP00000514025.1:p.Ser627Gly
ENST00000698912.1:c.*197A>G ENSP00000514026.1:n.*197A>G
ENST00000698913.1:c.1561A>G ENSP00000514027.1:p.Ser521Gly
ENST00000698915.1:c.1867A>G ENSP00000514029.1:p.Ser623Gly
ENST00000698916.1:c.1804A>G ENSP00000514030.1:p.Ser602Gly
ENST00000698918.1:c.*1521A>G ENSP00000514031.1:n.*1521A>G
ENST00000698919.1:c.*716A>G ENSP00000514032.1:n.*716A>G
ENST00000698920.1:n.1083A>G
ENST00000526596.2:c.1876A>G MANE Select ENSP00000433266.2:p.Ser626Gly
ENST00000300737.8:c.1783A>G ENSP00000300737.4:p.Ser595Gly
ENST00000526156.1:n.581A>G
ENST00000526596.1:c.1068A>G
ENST00000527651.5:c.*197A>G ENSP00000436208.1:n.*197A>G
ENST00000533977.5:c.1264A>G ENSP00000434767.1:p.Ser422Gly
ENST00000616714.4:c.2101A>G ENSP00000478059.1:p.Ser701Gly
NM_001277961.1:c.2101A>G NP_001264890.1:p.Ser701Gly
NM_001277962.1:c.*197A>G NP_001264891.1:n.*197A>G
NM_003156.3:c.1783A>G , LRG_164t1:c.1783A>G NP_003147.2:p.Ser595Gly
NM_001277962.2:c.*197A>G NP_001264891.1:n.*197A>G
NM_001277961.3:c.2101A>G NP_001264890.1:p.Ser701Gly
NM_001382566.1:c.1879A>G NP_001369495.1:p.Ser627Gly
NM_001382567.1:c.1876A>G MANE Select NP_001369496.1:p.Ser626Gly
NM_001382568.1:c.1804A>G NP_001369497.1:p.Ser602Gly
NM_001382569.1:c.1648A>G NP_001369498.1:p.Ser550Gly
NM_001382570.1:c.1555A>G NP_001369499.1:p.Ser519Gly
NM_001382571.1:c.1303A>G NP_001369500.1:p.Ser435Gly
NM_001382575.1:c.1561A>G NP_001369504.1:p.Ser521Gly
NM_001382576.1:c.1561A>G NP_001369505.1:p.Ser521Gly
NM_001382577.1:c.1561A>G NP_001369506.1:p.Ser521Gly
NM_001382578.1:c.*197A>G NP_001369507.1:n.*197A>G
NM_001382579.1:c.*197A>G NP_001369508.1:n.*197A>G
NM_001382580.1:c.*197A>G NP_001369509.1:n.*197A>G
NM_001382581.1:c.1294A>G NP_001369510.1:p.Ser432Gly
NM_003156.4:c.1783A>G NP_003147.2:p.Ser595Gly
NR_168436.1:n.1707A>G
NR_168437.1:n.2212A>G
NR_168438.1:n.2034A>G