Canonical Allele Identifier: CA379197454

Gene: STIM1

Linked Data

• gnomAD v4: 11-4091545-C-T
• MyVariant Identifiers: chr11:g.4112775C>T (hg19) ; chr11:g.4091545C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091545C>T , CM000673.2:g.4091545C>T	GRCh38
NC_000011.9:g.4112775C>T , CM000673.1:g.4112775C>T	GRCh37
NC_000011.8:g.4069351C>T	NCBI36
NG_016277.1:g.240843C>T , LRG_164:g.240843C>T
NG_027992.2:g.1852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*219C>T	ENSP00000432210.2:n.*219C>T
ENST00000698910.1:c.1316C>T	ENSP00000514024.1:p.Ser439Leu
ENST00000698911.1:c.1901C>T	ENSP00000514025.1:p.Ser634Leu
ENST00000698912.1:c.*219C>T	ENSP00000514026.1:n.*219C>T
ENST00000698913.1:c.1583C>T	ENSP00000514027.1:p.Ser528Leu
ENST00000698915.1:c.1889C>T	ENSP00000514029.1:p.Ser630Leu
ENST00000698916.1:c.1826C>T	ENSP00000514030.1:p.Ser609Leu
ENST00000698918.1:c.*1543C>T	ENSP00000514031.1:n.*1543C>T
ENST00000698919.1:c.*738C>T	ENSP00000514032.1:n.*738C>T
ENST00000698920.1:n.1105C>T
ENST00000526596.2:c.1898C>T MANE Select	ENSP00000433266.2:p.Ser633Leu
ENST00000300737.8:c.1805C>T	ENSP00000300737.4:p.Ser602Leu
ENST00000526156.1:n.603C>T
ENST00000526596.1:c.1090C>T
ENST00000527651.5:c.*219C>T	ENSP00000436208.1:n.*219C>T
ENST00000533977.5:c.1286C>T	ENSP00000434767.1:p.Ser429Leu
ENST00000616714.4:c.2123C>T	ENSP00000478059.1:p.Ser708Leu
NM_001277961.1:c.2123C>T	NP_001264890.1:p.Ser708Leu
NM_001277962.1:c.*219C>T	NP_001264891.1:n.*219C>T
NM_003156.3:c.1805C>T , LRG_164t1:c.1805C>T	NP_003147.2:p.Ser602Leu
NM_001277962.2:c.*219C>T	NP_001264891.1:n.*219C>T
NM_001277961.3:c.2123C>T	NP_001264890.1:p.Ser708Leu
NM_001382566.1:c.1901C>T	NP_001369495.1:p.Ser634Leu
NM_001382567.1:c.1898C>T MANE Select	NP_001369496.1:p.Ser633Leu
NM_001382568.1:c.1826C>T	NP_001369497.1:p.Ser609Leu
NM_001382569.1:c.1670C>T	NP_001369498.1:p.Ser557Leu
NM_001382570.1:c.1577C>T	NP_001369499.1:p.Ser526Leu
NM_001382571.1:c.1325C>T	NP_001369500.1:p.Ser442Leu
NM_001382575.1:c.1583C>T	NP_001369504.1:p.Ser528Leu
NM_001382576.1:c.1583C>T	NP_001369505.1:p.Ser528Leu
NM_001382577.1:c.1583C>T	NP_001369506.1:p.Ser528Leu
NM_001382578.1:c.*219C>T	NP_001369507.1:n.*219C>T
NM_001382579.1:c.*219C>T	NP_001369508.1:n.*219C>T
NM_001382580.1:c.*219C>T	NP_001369509.1:n.*219C>T
NM_001382581.1:c.1316C>T	NP_001369510.1:p.Ser439Leu
NM_003156.4:c.1805C>T	NP_003147.2:p.Ser602Leu
NR_168436.1:n.1729C>T
NR_168437.1:n.2234C>T
NR_168438.1:n.2056C>T