Canonical Allele Identifier: CA379197573

Gene: STIM1

Linked Data

• MyVariant Identifiers: chr11:g.4112803G>C (hg19) ; chr11:g.4091573G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091573G>C , CM000673.2:g.4091573G>C	GRCh38
NC_000011.9:g.4112803G>C , CM000673.1:g.4112803G>C	GRCh37
NC_000011.8:g.4069379G>C	NCBI36
NG_016277.1:g.240871G>C , LRG_164:g.240871G>C
NG_027992.2:g.1880G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*247G>C	ENSP00000432210.2:n.*247G>C
ENST00000698910.1:c.1344G>C	ENSP00000514024.1:p.Leu448Phe
ENST00000698911.1:c.1929G>C	ENSP00000514025.1:p.Leu643Phe
ENST00000698912.1:c.*247G>C	ENSP00000514026.1:n.*247G>C
ENST00000698913.1:c.1611G>C	ENSP00000514027.1:p.Leu537Phe
ENST00000698915.1:c.1917G>C	ENSP00000514029.1:p.Leu639Phe
ENST00000698916.1:c.1854G>C	ENSP00000514030.1:p.Leu618Phe
ENST00000698918.1:c.*1571G>C	ENSP00000514031.1:n.*1571G>C
ENST00000698919.1:c.*766G>C	ENSP00000514032.1:n.*766G>C
ENST00000698920.1:n.1133G>C
ENST00000526596.2:c.1926G>C MANE Select	ENSP00000433266.2:p.Leu642Phe
ENST00000300737.8:c.1833G>C	ENSP00000300737.4:p.Leu611Phe
ENST00000526156.1:n.631G>C
ENST00000526596.1:c.1118G>C
ENST00000527651.5:c.*247G>C	ENSP00000436208.1:n.*247G>C
ENST00000533977.5:c.1314G>C	ENSP00000434767.1:p.Leu438Phe
ENST00000616714.4:c.2151G>C	ENSP00000478059.1:p.Leu717Phe
NM_001277961.1:c.2151G>C	NP_001264890.1:p.Leu717Phe
NM_001277962.1:c.*247G>C	NP_001264891.1:n.*247G>C
NM_003156.3:c.1833G>C , LRG_164t1:c.1833G>C	NP_003147.2:p.Leu611Phe
NM_001277962.2:c.*247G>C	NP_001264891.1:n.*247G>C
NM_001277961.3:c.2151G>C	NP_001264890.1:p.Leu717Phe
NM_001382566.1:c.1929G>C	NP_001369495.1:p.Leu643Phe
NM_001382567.1:c.1926G>C MANE Select	NP_001369496.1:p.Leu642Phe
NM_001382568.1:c.1854G>C	NP_001369497.1:p.Leu618Phe
NM_001382569.1:c.1698G>C	NP_001369498.1:p.Leu566Phe
NM_001382570.1:c.1605G>C	NP_001369499.1:p.Leu535Phe
NM_001382571.1:c.1353G>C	NP_001369500.1:p.Leu451Phe
NM_001382575.1:c.1611G>C	NP_001369504.1:p.Leu537Phe
NM_001382576.1:c.1611G>C	NP_001369505.1:p.Leu537Phe
NM_001382577.1:c.1611G>C	NP_001369506.1:p.Leu537Phe
NM_001382578.1:c.*247G>C	NP_001369507.1:n.*247G>C
NM_001382579.1:c.*247G>C	NP_001369508.1:n.*247G>C
NM_001382580.1:c.*247G>C	NP_001369509.1:n.*247G>C
NM_001382581.1:c.1344G>C	NP_001369510.1:p.Leu448Phe
NM_003156.4:c.1833G>C	NP_003147.2:p.Leu611Phe
NR_168436.1:n.1757G>C
NR_168437.1:n.2262G>C
NR_168438.1:n.2084G>C