Canonical Allele Identifier: CA5830630

Gene: STIM1

Linked Data

• ClinVar Variation Id: 258974
• ClinVar RCV Id: RCV000253572 ; RCV000545536
• dbSNP Id: rs61743670
• ExAC: 11:4112773 C / G
• gnomAD v2: 11-4112773-C-G
• gnomAD v3: 11-4091543-C-G
• gnomAD v4: 11-4091543-C-G
• MyVariant Identifiers: chr11:g.4112773C>G (hg19) ; chr11:g.4091543C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091543C>G , CM000673.2:g.4091543C>G	GRCh38
NC_000011.9:g.4112773C>G , CM000673.1:g.4112773C>G	GRCh37
NC_000011.8:g.4069349C>G	NCBI36
NG_016277.1:g.240841C>G , LRG_164:g.240841C>G
NG_027992.2:g.1850C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*217C>G	ENSP00000432210.2:n.*217C>G
ENST00000698910.1:c.1314C>G	ENSP00000514024.1:p.Pro438=
ENST00000698911.1:c.1899C>G	ENSP00000514025.1:p.Pro633=
ENST00000698912.1:c.*217C>G	ENSP00000514026.1:n.*217C>G
ENST00000698913.1:c.1581C>G	ENSP00000514027.1:p.Pro527=
ENST00000698915.1:c.1887C>G	ENSP00000514029.1:p.Pro629=
ENST00000698916.1:c.1824C>G	ENSP00000514030.1:p.Pro608=
ENST00000698918.1:c.*1541C>G	ENSP00000514031.1:n.*1541C>G
ENST00000698919.1:c.*736C>G	ENSP00000514032.1:n.*736C>G
ENST00000698920.1:n.1103C>G
ENST00000526596.2:c.1896C>G MANE Select	ENSP00000433266.2:p.Pro632=
ENST00000300737.8:c.1803C>G	ENSP00000300737.4:p.Pro601=
ENST00000526156.1:n.601C>G
ENST00000526596.1:c.1088C>G
ENST00000527651.5:c.*217C>G	ENSP00000436208.1:n.*217C>G
ENST00000533977.5:c.1284C>G	ENSP00000434767.1:p.Pro428=
ENST00000616714.4:c.2121C>G	ENSP00000478059.1:p.Pro707=
NM_001277961.1:c.2121C>G	NP_001264890.1:p.Pro707=
NM_001277962.1:c.*217C>G	NP_001264891.1:n.*217C>G
NM_003156.3:c.1803C>G , LRG_164t1:c.1803C>G	NP_003147.2:p.Pro601=
NM_001277962.2:c.*217C>G	NP_001264891.1:n.*217C>G
NM_001277961.3:c.2121C>G	NP_001264890.1:p.Pro707=
NM_001382566.1:c.1899C>G	NP_001369495.1:p.Pro633=
NM_001382567.1:c.1896C>G MANE Select	NP_001369496.1:p.Pro632=
NM_001382568.1:c.1824C>G	NP_001369497.1:p.Pro608=
NM_001382569.1:c.1668C>G	NP_001369498.1:p.Pro556=
NM_001382570.1:c.1575C>G	NP_001369499.1:p.Pro525=
NM_001382571.1:c.1323C>G	NP_001369500.1:p.Pro441=
NM_001382575.1:c.1581C>G	NP_001369504.1:p.Pro527=
NM_001382576.1:c.1581C>G	NP_001369505.1:p.Pro527=
NM_001382577.1:c.1581C>G	NP_001369506.1:p.Pro527=
NM_001382578.1:c.*217C>G	NP_001369507.1:n.*217C>G
NM_001382579.1:c.*217C>G	NP_001369508.1:n.*217C>G
NM_001382580.1:c.*217C>G	NP_001369509.1:n.*217C>G
NM_001382581.1:c.1314C>G	NP_001369510.1:p.Pro438=
NM_003156.4:c.1803C>G	NP_003147.2:p.Pro601=
NR_168436.1:n.1727C>G
NR_168437.1:n.2232C>G
NR_168438.1:n.2054C>G