Canonical Allele Identifier: CA5830566
Gene: STIM1 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4086830G>A , CM000673.2:g.4086830G>A GRCh38
NC_000011.9:g.4108060G>A , CM000673.1:g.4108060G>A GRCh37
NC_000011.8:g.4064636G>A NCBI36
NG_016277.1:g.236128G>A , LRG_164:g.236128G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525403.6:c.1319+287G>A ENSP00000432210.2:n.1319+287G>A
ENST00000698909.1:n.2685G>A
ENST00000698910.1:c.1052+287G>A ENSP00000514024.1:n.1052+287G>A
ENST00000698911.1:c.1606G>A ENSP00000514025.1:p.Ala536Thr
ENST00000698912.1:c.1319+287G>A ENSP00000514026.1:n.1319+287G>A
ENST00000698913.1:c.1319+287G>A ENSP00000514027.1:n.1319+287G>A
ENST00000698915.1:c.1542-106G>A ENSP00000514029.1:n.1542-106G>A
ENST00000698916.1:c.1562+287G>A ENSP00000514030.1:n.1562+287G>A
ENST00000698918.1:c.*1242+287G>A ENSP00000514031.1:n.*1242+287G>A
ENST00000698919.1:c.*474+287G>A ENSP00000514032.1:n.*474+287G>A
ENST00000698920.1:n.841+287G>A
ENST00000526596.2:c.1634+287G>A MANE Select ENSP00000433266.2:n.1634+287G>A
ENST00000300737.8:c.1541+287G>A ENSP00000300737.4:n.1541+287G>A
ENST00000526156.1:n.339+287G>A
ENST00000526596.1:c.826+287G>A
ENST00000527651.5:c.1541+287G>A ENSP00000436208.1:n.1541+287G>A
ENST00000531332.1:n.409+287G>A
ENST00000533977.5:c.1022+287G>A ENSP00000434767.1:n.1022+287G>A
ENST00000616714.4:c.1828G>A ENSP00000478059.1:p.Ala610Thr
NM_001277961.1:c.1828G>A NP_001264890.1:p.Ala610Thr
NM_001277962.1:c.1541+287G>A NP_001264891.1:n.1541+287G>A
NM_003156.3:c.1541+287G>A , LRG_164t1:c.1541+287G>A NP_003147.2:n.1541+287G>A
NM_001277962.2:c.1541+287G>A NP_001264891.1:n.1541+287G>A
NM_001277961.3:c.1828G>A NP_001264890.1:p.Ala610Thr
NM_001382566.1:c.1606G>A NP_001369495.1:p.Ala536Thr
NM_001382567.1:c.1634+287G>A MANE Select NP_001369496.1:n.1634+287G>A
NM_001382568.1:c.1562+287G>A NP_001369497.1:n.1562+287G>A
NM_001382569.1:c.1406+287G>A NP_001369498.1:n.1406+287G>A
NM_001382570.1:c.1313+287G>A NP_001369499.1:n.1313+287G>A
NM_001382571.1:c.1061+287G>A NP_001369500.1:n.1061+287G>A
NM_001382575.1:c.1319+287G>A NP_001369504.1:n.1319+287G>A
NM_001382576.1:c.1319+287G>A NP_001369505.1:n.1319+287G>A
NM_001382577.1:c.1319+287G>A NP_001369506.1:n.1319+287G>A
NM_001382578.1:c.1319+287G>A NP_001369507.1:n.1319+287G>A
NM_001382579.1:c.1319+287G>A NP_001369508.1:n.1319+287G>A
NM_001382580.1:c.1052+287G>A NP_001369509.1:n.1052+287G>A
NM_001382581.1:c.1052+287G>A NP_001369510.1:n.1052+287G>A
NM_003156.4:c.1541+287G>A NP_003147.2:n.1541+287G>A
NR_168436.1:n.1465+287G>A
NR_168437.1:n.1970+287G>A
NR_168438.1:n.1792+287G>A