Canonical Allele Identifier: CA379197542

Gene: STIM1

Linked Data

• dbSNP Id: rs1430104057
• gnomAD v2: 11-4112798-C-T
• MyVariant Identifiers: chr11:g.4112798C>T (hg19) ; chr11:g.4091568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091568C>T , CM000673.2:g.4091568C>T	GRCh38
NC_000011.9:g.4112798C>T , CM000673.1:g.4112798C>T	GRCh37
NC_000011.8:g.4069374C>T	NCBI36
NG_016277.1:g.240866C>T , LRG_164:g.240866C>T
NG_027992.2:g.1875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*242C>T	ENSP00000432210.2:n.*242C>T
ENST00000698910.1:c.1339C>T	ENSP00000514024.1:p.His447Tyr
ENST00000698911.1:c.1924C>T	ENSP00000514025.1:p.His642Tyr
ENST00000698912.1:c.*242C>T	ENSP00000514026.1:n.*242C>T
ENST00000698913.1:c.1606C>T	ENSP00000514027.1:p.His536Tyr
ENST00000698915.1:c.1912C>T	ENSP00000514029.1:p.His638Tyr
ENST00000698916.1:c.1849C>T	ENSP00000514030.1:p.His617Tyr
ENST00000698918.1:c.*1566C>T	ENSP00000514031.1:n.*1566C>T
ENST00000698919.1:c.*761C>T	ENSP00000514032.1:n.*761C>T
ENST00000698920.1:n.1128C>T
ENST00000526596.2:c.1921C>T MANE Select	ENSP00000433266.2:p.His641Tyr
ENST00000300737.8:c.1828C>T	ENSP00000300737.4:p.His610Tyr
ENST00000526156.1:n.626C>T
ENST00000526596.1:c.1113C>T
ENST00000527651.5:c.*242C>T	ENSP00000436208.1:n.*242C>T
ENST00000533977.5:c.1309C>T	ENSP00000434767.1:p.His437Tyr
ENST00000616714.4:c.2146C>T	ENSP00000478059.1:p.His716Tyr
NM_001277961.1:c.2146C>T	NP_001264890.1:p.His716Tyr
NM_001277962.1:c.*242C>T	NP_001264891.1:n.*242C>T
NM_003156.3:c.1828C>T , LRG_164t1:c.1828C>T	NP_003147.2:p.His610Tyr
NM_001277962.2:c.*242C>T	NP_001264891.1:n.*242C>T
NM_001277961.3:c.2146C>T	NP_001264890.1:p.His716Tyr
NM_001382566.1:c.1924C>T	NP_001369495.1:p.His642Tyr
NM_001382567.1:c.1921C>T MANE Select	NP_001369496.1:p.His641Tyr
NM_001382568.1:c.1849C>T	NP_001369497.1:p.His617Tyr
NM_001382569.1:c.1693C>T	NP_001369498.1:p.His565Tyr
NM_001382570.1:c.1600C>T	NP_001369499.1:p.His534Tyr
NM_001382571.1:c.1348C>T	NP_001369500.1:p.His450Tyr
NM_001382575.1:c.1606C>T	NP_001369504.1:p.His536Tyr
NM_001382576.1:c.1606C>T	NP_001369505.1:p.His536Tyr
NM_001382577.1:c.1606C>T	NP_001369506.1:p.His536Tyr
NM_001382578.1:c.*242C>T	NP_001369507.1:n.*242C>T
NM_001382579.1:c.*242C>T	NP_001369508.1:n.*242C>T
NM_001382580.1:c.*242C>T	NP_001369509.1:n.*242C>T
NM_001382581.1:c.1339C>T	NP_001369510.1:p.His447Tyr
NM_003156.4:c.1828C>T	NP_003147.2:p.His610Tyr
NR_168436.1:n.1752C>T
NR_168437.1:n.2257C>T
NR_168438.1:n.2079C>T