Canonical Allele Identifier: CA5830436
Gene: STIM1 HGNC NCBI

Linked Data

dbSNP Id: rs757985099
gnomAD v2: 11-4104459-T-C
gnomAD v4: 11-4083229-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4083229T>C , CM000673.2:g.4083229T>C GRCh38
NC_000011.9:g.4104459T>C , CM000673.1:g.4104459T>C GRCh37
NC_000011.8:g.4061035T>C NCBI36
NG_016277.1:g.232527T>C , LRG_164:g.232527T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000525403.6:c.1017-34T>C ENSP00000432210.2:n.1017-34T>C
ENST00000533343.2:n.1838-34T>C
ENST00000698909.1:n.2062T>C
ENST00000698910.1:c.750-34T>C ENSP00000514024.1:n.750-34T>C
ENST00000698911.1:c.1017-34T>C ENSP00000514025.1:n.1017-34T>C
ENST00000698912.1:c.1017-34T>C ENSP00000514026.1:n.1017-34T>C
ENST00000698913.1:c.1017-34T>C ENSP00000514027.1:n.1017-34T>C
ENST00000698915.1:c.1239-34T>C ENSP00000514029.1:n.1239-34T>C
ENST00000698916.1:c.1260-34T>C ENSP00000514030.1:n.1260-34T>C
ENST00000698918.1:c.*940-34T>C ENSP00000514031.1:n.*940-34T>C
ENST00000698919.1:c.*172-34T>C ENSP00000514032.1:n.*172-34T>C
ENST00000698920.1:n.539-34T>C
ENST00000526596.2:c.1239-34T>C MANE Select ENSP00000433266.2:n.1239-34T>C
ENST00000300737.8:c.1239-34T>C ENSP00000300737.4:n.1239-34T>C
ENST00000526596.1:c.431-34T>C
ENST00000527651.5:c.1239-34T>C ENSP00000436208.1:n.1239-34T>C
ENST00000531332.1:n.73T>C
ENST00000533343.1:n.249-34T>C
ENST00000533977.5:c.720-34T>C ENSP00000434767.1:n.720-34T>C
ENST00000616714.4:c.1239-34T>C ENSP00000478059.1:n.1239-34T>C
NM_001277961.1:c.1239-34T>C NP_001264890.1:n.1239-34T>C
NM_001277962.1:c.1239-34T>C NP_001264891.1:n.1239-34T>C
NM_003156.3:c.1239-34T>C , LRG_164t1:c.1239-34T>C NP_003147.2:n.1239-34T>C
NM_001277962.2:c.1239-34T>C NP_001264891.1:n.1239-34T>C
NM_001277961.3:c.1239-34T>C NP_001264890.1:n.1239-34T>C
NM_001382566.1:c.1017-34T>C NP_001369495.1:n.1017-34T>C
NM_001382567.1:c.1239-34T>C MANE Select NP_001369496.1:n.1239-34T>C
NM_001382568.1:c.1239-13T>C NP_001369497.1:n.1239-13T>C
NM_001382569.1:c.1104-34T>C NP_001369498.1:n.1104-34T>C
NM_001382570.1:c.1011-34T>C NP_001369499.1:n.1011-34T>C
NM_001382571.1:c.759-34T>C NP_001369500.1:n.759-34T>C
NM_001382573.1:c.1017-34T>C NP_001369502.1:n.1017-34T>C
NM_001382575.1:c.1017-34T>C NP_001369504.1:n.1017-34T>C
NM_001382576.1:c.1017-34T>C NP_001369505.1:n.1017-34T>C
NM_001382577.1:c.1017-34T>C NP_001369506.1:n.1017-34T>C
NM_001382578.1:c.1017-34T>C NP_001369507.1:n.1017-34T>C
NM_001382579.1:c.1017-34T>C NP_001369508.1:n.1017-34T>C
NM_001382580.1:c.750-34T>C NP_001369509.1:n.750-34T>C
NM_001382581.1:c.750-34T>C NP_001369510.1:n.750-34T>C
NM_003156.4:c.1239-34T>C NP_003147.2:n.1239-34T>C
NR_168436.1:n.1399-3248T>C
NR_168437.1:n.1668-34T>C
NR_168438.1:n.1490-34T>C