Canonical Allele Identifier: CA9037416

Gene: GPX4

Linked Data

• ClinVar Variation Id: 2098375
• ClinVar RCV Id: RCV003030918
• dbSNP Id: rs780851132
• ExAC: 19:1106248 A / G
• gnomAD v2: 19-1106248-A-G
• gnomAD v3: 19-1106249-A-G
• gnomAD v4: 19-1106249-A-G
• MyVariant Identifiers: chr19:g.1106248A>G (hg19) ; chr19:g.1106249A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1106249A>G , CM000681.2:g.1106249A>G	GRCh38
NC_000019.9:g.1106248A>G , CM000681.1:g.1106248A>G	GRCh37
NC_000019.8:g.1057248A>G	NCBI36
NG_050621.1:g.7324A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585362.7:c.595A>G	ENSP00000473614.3:p.Lys199Glu
ENST00000593032.6:c.464A>G	ENSP00000465828.4:p.Gln155Arg
ENST00000706713.1:c.478A>G	ENSP00000516510.1:p.Lys160Glu
ENST00000706714.1:c.464A>G	ENSP00000516511.1:p.Gln155Arg
ENST00000706715.1:c.100A>G	ENSP00000516512.1:p.Lys34Glu
ENST00000354171.13:c.484A>G MANE Select	ENSP00000346103.7:p.Lys162Glu
ENST00000589115.6:c.477-151A>G	ENSP00000466872.3:n.477-151A>G
ENST00000354171.12:c.484A>G	ENSP00000346103.7:p.Lys162Glu
ENST00000585480.1:c.217A>G	ENSP00000467900.1:p.Lys73Glu
ENST00000587648.5:c.364A>G	ENSP00000468349.1:p.Lys122Glu
ENST00000588919.5:c.403A>G	ENSP00000464989.3:p.Lys135Glu
ENST00000589115.5:c.477-151A>G	ENSP00000466872.2:n.477-151A>G
ENST00000592940.2:n.855A>G
ENST00000593032.5:c.464A>G	ENSP00000465828.3:p.Gln155Arg
ENST00000611653.4:c.403A>G	ENSP00000483655.1:p.Lys135Glu
ENST00000616066.4:c.481A>G	ENSP00000485000.1:p.Lys161Glu
ENST00000622390.4:c.592A>G	ENSP00000477503.1:p.Lys198Glu
NM_001039847.2:c.484A>G	NP_001034936.1:p.Lys162Glu
NM_001039848.2:c.595A>G	NP_001034937.1:p.Lys199Glu
NM_002085.4:c.484A>G	NP_002076.2:p.Lys162Glu
NM_001039848.3:c.595A>G	NP_001034937.1:p.Lys199Glu
NM_001039847.3:c.484A>G	NP_001034936.1:p.Lys162Glu
NM_001039848.4:c.595A>G	NP_001034937.1:p.Lys199Glu
NM_001367832.1:c.403A>G	NP_001354761.1:p.Lys135Glu
NM_002085.5:c.484A>G MANE Select	NP_002076.2:p.Lys162Glu