Canonical Allele Identifier: CA379194092

Gene: STIM1

Linked Data

• gnomAD v4: 11-4083293-G-C
• MyVariant Identifiers: chr11:g.4104523G>C (hg19) ; chr11:g.4083293G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083293G>C , CM000673.2:g.4083293G>C	GRCh38
NC_000011.9:g.4104523G>C , CM000673.1:g.4104523G>C	GRCh37
NC_000011.8:g.4061099G>C	NCBI36
NG_016277.1:g.232591G>C , LRG_164:g.232591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.1047G>C	ENSP00000432210.2:p.Leu349Phe
ENST00000533343.2:n.1868G>C
ENST00000698909.1:n.2126G>C
ENST00000698910.1:c.780G>C	ENSP00000514024.1:p.Leu260Phe
ENST00000698911.1:c.1047G>C	ENSP00000514025.1:p.Leu349Phe
ENST00000698912.1:c.1047G>C	ENSP00000514026.1:p.Leu349Phe
ENST00000698913.1:c.1047G>C	ENSP00000514027.1:p.Leu349Phe
ENST00000698915.1:c.1269G>C	ENSP00000514029.1:p.Leu423Phe
ENST00000698916.1:c.1290G>C	ENSP00000514030.1:p.Leu430Phe
ENST00000698918.1:c.*970G>C	ENSP00000514031.1:n.*970G>C
ENST00000698919.1:c.*202G>C	ENSP00000514032.1:n.*202G>C
ENST00000698920.1:n.569G>C
ENST00000526596.2:c.1269G>C MANE Select	ENSP00000433266.2:p.Leu423Phe
ENST00000300737.8:c.1269G>C	ENSP00000300737.4:p.Leu423Phe
ENST00000526596.1:c.461G>C
ENST00000527651.5:c.1269G>C	ENSP00000436208.1:p.Leu423Phe
ENST00000531332.1:n.137G>C
ENST00000533343.1:n.279G>C
ENST00000533977.5:c.750G>C	ENSP00000434767.1:p.Leu250Phe
ENST00000616714.4:c.1269G>C	ENSP00000478059.1:p.Leu423Phe
NM_001277961.1:c.1269G>C	NP_001264890.1:p.Leu423Phe
NM_001277962.1:c.1269G>C	NP_001264891.1:p.Leu423Phe
NM_003156.3:c.1269G>C , LRG_164t1:c.1269G>C	NP_003147.2:p.Leu423Phe
NM_001277962.2:c.1269G>C	NP_001264891.1:p.Leu423Phe
NM_001277961.3:c.1269G>C	NP_001264890.1:p.Leu423Phe
NM_001382566.1:c.1047G>C	NP_001369495.1:p.Leu349Phe
NM_001382567.1:c.1269G>C MANE Select	NP_001369496.1:p.Leu423Phe
NM_001382568.1:c.1290G>C	NP_001369497.1:p.Leu430Phe
NM_001382569.1:c.1134G>C	NP_001369498.1:p.Leu378Phe
NM_001382570.1:c.1041G>C	NP_001369499.1:p.Leu347Phe
NM_001382571.1:c.789G>C	NP_001369500.1:p.Leu263Phe
NM_001382573.1:c.1047G>C	NP_001369502.1:p.Leu349Phe
NM_001382575.1:c.1047G>C	NP_001369504.1:p.Leu349Phe
NM_001382576.1:c.1047G>C	NP_001369505.1:p.Leu349Phe
NM_001382577.1:c.1047G>C	NP_001369506.1:p.Leu349Phe
NM_001382578.1:c.1047G>C	NP_001369507.1:p.Leu349Phe
NM_001382579.1:c.1047G>C	NP_001369508.1:p.Leu349Phe
NM_001382580.1:c.780G>C	NP_001369509.1:p.Leu260Phe
NM_001382581.1:c.780G>C	NP_001369510.1:p.Leu260Phe
NM_003156.4:c.1269G>C	NP_003147.2:p.Leu423Phe
NR_168436.1:n.1399-3184G>C
NR_168437.1:n.1698G>C
NR_168438.1:n.1520G>C