Canonical Allele Identifier: CA402940520
Gene: GPX4 HGNC NCBI

Linked Data

dbSNP Id: rs2079662153
gnomAD v4: 19-1106621-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1106621C>T , CM000681.2:g.1106621C>T GRCh38
NC_000019.9:g.1106620C>T , CM000681.1:g.1106620C>T GRCh37
NC_000019.8:g.1057620C>T NCBI36
NG_050621.1:g.7696C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000585362.7:c.*49C>T ENSP00000473614.3:n.*49C>T
ENST00000593032.6:c.623C>T ENSP00000465828.4:p.Ala208Val
ENST00000706713.1:c.*49C>T ENSP00000516510.1:n.*49C>T
ENST00000706714.1:c.623C>T ENSP00000516511.1:p.Ala208Val
ENST00000706715.1:c.*49C>T ENSP00000516512.1:n.*49C>T
ENST00000354171.13:c.*49C>T MANE Select ENSP00000346103.7:n.*49C>T
ENST00000589115.6:c.*75C>T ENSP00000466872.3:n.*75C>T
ENST00000354171.12:c.*49C>T ENSP00000346103.7:n.*49C>T
ENST00000585480.1:c.343C>T ENSP00000467900.1:p.Pro115Ser
ENST00000588919.5:c.584C>T ENSP00000464989.3:p.Ala195Val
ENST00000589115.5:c.*75C>T ENSP00000466872.2:n.*75C>T
ENST00000592940.2:n.1014C>T
ENST00000611653.4:c.*49C>T ENSP00000483655.1:n.*49C>T
ENST00000616066.4:c.*49C>T ENSP00000485000.1:n.*49C>T
ENST00000622390.4:c.*49C>T ENSP00000477503.1:n.*49C>T
NM_001039847.2:c.665C>T NP_001034936.1:p.Ala222Val
NM_001039848.2:c.*49C>T NP_001034937.1:n.*49C>T
NM_002085.4:c.*49C>T NP_002076.2:n.*49C>T
NM_001039848.3:c.*49C>T NP_001034937.1:n.*49C>T
NM_001039847.3:c.665C>T NP_001034936.1:p.Ala222Val
NM_001039848.4:c.*49C>T NP_001034937.1:n.*49C>T
NM_001367832.1:c.*49C>T NP_001354761.1:n.*49C>T
NM_002085.5:c.*49C>T MANE Select NP_002076.2:n.*49C>T