Canonical Allele Identifier: CA402940088
Gene: GPX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2543578
ClinVar RCV Id: RCV003287333

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1106443C>T , CM000681.2:g.1106443C>T GRCh38
NC_000019.9:g.1106442C>T , CM000681.1:g.1106442C>T GRCh37
NC_000019.8:g.1057442C>T NCBI36
NG_050621.1:g.7518C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000585362.7:c.656C>T ENSP00000473614.3:p.Pro219Leu
ENST00000593032.6:c.525C>T ENSP00000465828.4:p.Thr175=
ENST00000706713.1:c.539C>T ENSP00000516510.1:p.Pro180Leu
ENST00000706714.1:c.525C>T ENSP00000516511.1:p.Thr175=
ENST00000706715.1:c.161C>T ENSP00000516512.1:p.Pro54Leu
ENST00000354171.13:c.545C>T MANE Select ENSP00000346103.7:p.Pro182Leu
ENST00000589115.6:c.520C>T ENSP00000466872.3:p.Pro174Ser
ENST00000354171.12:c.545C>T ENSP00000346103.7:p.Pro182Leu
ENST00000585480.1:c.278C>T ENSP00000467900.1:p.Pro93Leu
ENST00000587648.5:c.425C>T ENSP00000468349.1:p.Pro142Leu
ENST00000588919.5:c.486C>T ENSP00000464989.3:p.Thr162=
ENST00000589115.5:c.520C>T ENSP00000466872.2:p.Pro174Ser
ENST00000592940.2:n.916C>T
ENST00000593032.5:c.525C>T ENSP00000465828.3:p.Thr175=
ENST00000611653.4:c.464C>T ENSP00000483655.1:p.Pro155Leu
ENST00000616066.4:c.542C>T ENSP00000485000.1:p.Pro181Leu
ENST00000622390.4:c.653C>T ENSP00000477503.1:p.Pro218Leu
NM_001039847.2:c.567C>T NP_001034936.1:p.Thr189=
NM_001039848.2:c.656C>T NP_001034937.1:p.Pro219Leu
NM_002085.4:c.545C>T NP_002076.2:p.Pro182Leu
NM_001039848.3:c.656C>T NP_001034937.1:p.Pro219Leu
NM_001039847.3:c.567C>T NP_001034936.1:p.Thr189=
NM_001039848.4:c.656C>T NP_001034937.1:p.Pro219Leu
NM_001367832.1:c.464C>T NP_001354761.1:p.Pro155Leu
NM_002085.5:c.545C>T MANE Select NP_002076.2:p.Pro182Leu