Canonical Allele Identifier: CA2612107193
Gene: STIM1 HGNC NCBI

Linked Data

gnomAD v4: 11-4083128-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4083128C>A , CM000673.2:g.4083128C>A GRCh38
NC_000011.9:g.4104358C>A , CM000673.1:g.4104358C>A GRCh37
NC_000011.8:g.4060934C>A NCBI36
NG_016277.1:g.232426C>A , LRG_164:g.232426C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000525403.6:c.1017-135C>A ENSP00000432210.2:n.1017-135C>A
ENST00000533343.2:n.1838-135C>A
ENST00000698909.1:n.1961C>A
ENST00000698910.1:c.750-135C>A ENSP00000514024.1:n.750-135C>A
ENST00000698911.1:c.1017-135C>A ENSP00000514025.1:n.1017-135C>A
ENST00000698912.1:c.1017-135C>A ENSP00000514026.1:n.1017-135C>A
ENST00000698913.1:c.1017-135C>A ENSP00000514027.1:n.1017-135C>A
ENST00000698915.1:c.1239-135C>A ENSP00000514029.1:n.1239-135C>A
ENST00000698916.1:c.1260-135C>A ENSP00000514030.1:n.1260-135C>A
ENST00000698918.1:c.*940-135C>A ENSP00000514031.1:n.*940-135C>A
ENST00000698919.1:c.*172-135C>A ENSP00000514032.1:n.*172-135C>A
ENST00000698920.1:n.539-135C>A
ENST00000526596.2:c.1239-135C>A MANE Select ENSP00000433266.2:n.1239-135C>A
ENST00000300737.8:c.1239-135C>A ENSP00000300737.4:n.1239-135C>A
ENST00000526596.1:c.431-135C>A
ENST00000527651.5:c.1239-135C>A ENSP00000436208.1:n.1239-135C>A
ENST00000533343.1:n.249-135C>A
ENST00000533977.5:c.720-135C>A ENSP00000434767.1:n.720-135C>A
ENST00000616714.4:c.1239-135C>A ENSP00000478059.1:n.1239-135C>A
NM_001277961.1:c.1239-135C>A NP_001264890.1:n.1239-135C>A
NM_001277962.1:c.1239-135C>A NP_001264891.1:n.1239-135C>A
NM_003156.3:c.1239-135C>A , LRG_164t1:c.1239-135C>A NP_003147.2:n.1239-135C>A
NM_001277962.2:c.1239-135C>A NP_001264891.1:n.1239-135C>A
NM_001277961.3:c.1239-135C>A NP_001264890.1:n.1239-135C>A
NM_001382566.1:c.1017-135C>A NP_001369495.1:n.1017-135C>A
NM_001382567.1:c.1239-135C>A MANE Select NP_001369496.1:n.1239-135C>A
NM_001382568.1:c.1239-114C>A NP_001369497.1:n.1239-114C>A
NM_001382569.1:c.1104-135C>A NP_001369498.1:n.1104-135C>A
NM_001382570.1:c.1011-135C>A NP_001369499.1:n.1011-135C>A
NM_001382571.1:c.759-135C>A NP_001369500.1:n.759-135C>A
NM_001382573.1:c.1017-135C>A NP_001369502.1:n.1017-135C>A
NM_001382575.1:c.1017-135C>A NP_001369504.1:n.1017-135C>A
NM_001382576.1:c.1017-135C>A NP_001369505.1:n.1017-135C>A
NM_001382577.1:c.1017-135C>A NP_001369506.1:n.1017-135C>A
NM_001382578.1:c.1017-135C>A NP_001369507.1:n.1017-135C>A
NM_001382579.1:c.1017-135C>A NP_001369508.1:n.1017-135C>A
NM_001382580.1:c.750-135C>A NP_001369509.1:n.750-135C>A
NM_001382581.1:c.750-135C>A NP_001369510.1:n.750-135C>A
NM_003156.4:c.1239-135C>A NP_003147.2:n.1239-135C>A
NR_168436.1:n.1399-3349C>A
NR_168437.1:n.1668-135C>A
NR_168438.1:n.1490-135C>A