Canonical Allele Identifier: CA9037476
Gene: GPX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2519507
ClinVar RCV Id: RCV003270192
dbSNP Id: rs760126037
gnomAD v2: 19-1106432-C-T
gnomAD v3: 19-1106433-C-T
gnomAD v4: 19-1106433-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1106433C>T , CM000681.2:g.1106433C>T GRCh38
NC_000019.9:g.1106432C>T , CM000681.1:g.1106432C>T GRCh37
NC_000019.8:g.1057432C>T NCBI36
NG_050621.1:g.7508C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000585362.7:c.646C>T ENSP00000473614.3:p.Arg216Cys
ENST00000593032.6:c.515C>T ENSP00000465828.4:p.Ala172Val
ENST00000706713.1:c.529C>T ENSP00000516510.1:p.Arg177Cys
ENST00000706714.1:c.515C>T ENSP00000516511.1:p.Ala172Val
ENST00000706715.1:c.151C>T ENSP00000516512.1:p.Arg51Cys
ENST00000354171.13:c.535C>T MANE Select ENSP00000346103.7:p.Arg179Cys
ENST00000589115.6:c.510C>T ENSP00000466872.3:p.Ser170=
ENST00000354171.12:c.535C>T ENSP00000346103.7:p.Arg179Cys
ENST00000585480.1:c.268C>T ENSP00000467900.1:p.Arg90Cys
ENST00000587648.5:c.415C>T ENSP00000468349.1:p.Arg139Cys
ENST00000588919.5:c.476C>T ENSP00000464989.3:p.Ala159Val
ENST00000589115.5:c.510C>T ENSP00000466872.2:p.Ser170=
ENST00000592940.2:n.906C>T
ENST00000593032.5:c.515C>T ENSP00000465828.3:p.Ala172Val
ENST00000611653.4:c.454C>T ENSP00000483655.1:p.Arg152Cys
ENST00000616066.4:c.532C>T ENSP00000485000.1:p.Arg178Cys
ENST00000622390.4:c.643C>T ENSP00000477503.1:p.Arg215Cys
NM_001039847.2:c.557C>T NP_001034936.1:p.Ala186Val
NM_001039848.2:c.646C>T NP_001034937.1:p.Arg216Cys
NM_002085.4:c.535C>T NP_002076.2:p.Arg179Cys
NM_001039848.3:c.646C>T NP_001034937.1:p.Arg216Cys
NM_001039847.3:c.557C>T NP_001034936.1:p.Ala186Val
NM_001039848.4:c.646C>T NP_001034937.1:p.Arg216Cys
NM_001367832.1:c.454C>T NP_001354761.1:p.Arg152Cys
NM_002085.5:c.535C>T MANE Select NP_002076.2:p.Arg179Cys