Canonical Allele Identifier: CA379194337
Gene: STIM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4083403G>T , CM000673.2:g.4083403G>T GRCh38
NC_000011.9:g.4104633G>T , CM000673.1:g.4104633G>T GRCh37
NC_000011.8:g.4061209G>T NCBI36
NG_016277.1:g.232701G>T , LRG_164:g.232701G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525403.6:c.1157G>T ENSP00000432210.2:p.Trp386Leu
ENST00000533343.2:n.1978G>T
ENST00000698909.1:n.2236G>T
ENST00000698910.1:c.890G>T ENSP00000514024.1:p.Trp297Leu
ENST00000698911.1:c.1157G>T ENSP00000514025.1:p.Trp386Leu
ENST00000698912.1:c.1157G>T ENSP00000514026.1:p.Trp386Leu
ENST00000698913.1:c.1157G>T ENSP00000514027.1:p.Trp386Leu
ENST00000698915.1:c.1379G>T ENSP00000514029.1:p.Trp460Leu
ENST00000698916.1:c.1400G>T ENSP00000514030.1:p.Trp467Leu
ENST00000698918.1:c.*1080G>T ENSP00000514031.1:n.*1080G>T
ENST00000698919.1:c.*312G>T ENSP00000514032.1:n.*312G>T
ENST00000698920.1:n.679G>T
ENST00000526596.2:c.1379G>T MANE Select ENSP00000433266.2:p.Trp460Leu
ENST00000300737.8:c.1379G>T ENSP00000300737.4:p.Trp460Leu
ENST00000526596.1:c.571G>T
ENST00000527651.5:c.1379G>T ENSP00000436208.1:p.Trp460Leu
ENST00000531332.1:n.247G>T
ENST00000533343.1:n.389G>T
ENST00000533977.5:c.860G>T ENSP00000434767.1:p.Trp287Leu
ENST00000616714.4:c.1379G>T ENSP00000478059.1:p.Trp460Leu
NM_001277961.1:c.1379G>T NP_001264890.1:p.Trp460Leu
NM_001277962.1:c.1379G>T NP_001264891.1:p.Trp460Leu
NM_003156.3:c.1379G>T , LRG_164t1:c.1379G>T NP_003147.2:p.Trp460Leu
NM_001277962.2:c.1379G>T NP_001264891.1:p.Trp460Leu
NM_001277961.3:c.1379G>T NP_001264890.1:p.Trp460Leu
NM_001382566.1:c.1157G>T NP_001369495.1:p.Trp386Leu
NM_001382567.1:c.1379G>T MANE Select NP_001369496.1:p.Trp460Leu
NM_001382568.1:c.1400G>T NP_001369497.1:p.Trp467Leu
NM_001382569.1:c.1244G>T NP_001369498.1:p.Trp415Leu
NM_001382570.1:c.1151G>T NP_001369499.1:p.Trp384Leu
NM_001382571.1:c.899G>T NP_001369500.1:p.Trp300Leu
NM_001382573.1:c.1157G>T NP_001369502.1:p.Trp386Leu
NM_001382575.1:c.1157G>T NP_001369504.1:p.Trp386Leu
NM_001382576.1:c.1157G>T NP_001369505.1:p.Trp386Leu
NM_001382577.1:c.1157G>T NP_001369506.1:p.Trp386Leu
NM_001382578.1:c.1157G>T NP_001369507.1:p.Trp386Leu
NM_001382579.1:c.1157G>T NP_001369508.1:p.Trp386Leu
NM_001382580.1:c.890G>T NP_001369509.1:p.Trp297Leu
NM_001382581.1:c.890G>T NP_001369510.1:p.Trp297Leu
NM_003156.4:c.1379G>T NP_003147.2:p.Trp460Leu
NR_168436.1:n.1399-3074G>T
NR_168437.1:n.1808G>T
NR_168438.1:n.1630G>T