Canonical Allele Identifier: CA352783647

Gene: GPX1

Linked Data

• ClinVar Variation Id: 2432258
• ClinVar RCV Id: RCV003131069
• dbSNP Id: rs762298249
• gnomAD v2: 3-49395660-C-A
• gnomAD v3: 3-49358227-C-A
• gnomAD v4: 3-49358227-C-A
• MyVariant Identifiers: chr3:g.49395660C>A (hg19) ; chr3:g.49358227C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49358227C>A , CM000665.2:g.49358227C>A	GRCh38
NC_000003.11:g.49395660C>A , CM000665.1:g.49395660C>A	GRCh37
NC_000003.10:g.49370664C>A	NCBI36
NG_012264.1:g.5132G>T
NG_051308.1:g.58871G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000419349.3:c.52G>T	ENSP00000391316.1:p.Ala18Ser
ENST00000496791.3:c.52G>T	ENSP00000493593.2:p.Ala18Ser
ENST00000643797.2:c.52G>T	ENSP00000495108.1:p.Ala18Ser
ENST00000646881.3:c.52G>T	ENSP00000495001.2:p.Ala18Ser
ENST00000703795.1:c.52G>T	ENSP00000515480.1:p.Ala18Ser
ENST00000703796.1:c.52G>T	ENSP00000515481.1:p.Ala18Ser
ENST00000703797.1:c.52G>T	ENSP00000515482.1:p.Ala18Ser
ENST00000704356.1:c.52G>T	ENSP00000515867.1:p.Ala18Ser
ENST00000704374.1:c.52G>T	ENSP00000515879.1:p.Ala18Ser
ENST00000704375.1:c.52G>T	ENSP00000515880.1:p.Ala18Ser
ENST00000704376.1:c.52G>T	ENSP00000515881.1:p.Ala18Ser
ENST00000704377.1:c.52G>T	ENSP00000515882.1:p.Ala18Ser
ENST00000704378.1:c.52G>T	ENSP00000515883.1:p.Ala18Ser
ENST00000704379.1:n.126-480G>T
ENST00000704380.1:n.86-480G>T
ENST00000704381.1:c.465-480G>T	ENSP00000515884.1:n.465-480G>T
ENST00000419349.2:c.52G>T	ENSP00000391316.1:p.Ala18Ser
ENST00000419783.3:c.52G>T MANE Select	ENSP00000407375.1:p.Ala18Ser
ENST00000496791.2:c.52G>T	ENSP00000493593.2:p.Ala18Ser
ENST00000643797.1:c.52G>T	ENSP00000495108.1:p.Ala18Ser
ENST00000646881.2:c.52G>T	ENSP00000495001.2:p.Ala18Ser
ENST00000419349.1:c.52G>T	ENSP00000391316.1:p.Ala18Ser
ENST00000419783.1:c.52G>T	ENSP00000407375.1:p.Ala18Ser
ENST00000496791.1:n.99G>T
ENST00000620890.1:c.52G>T	ENSP00000478837.1:p.Ala18Ser
NM_000581.2:c.52G>T	NP_000572.2:p.Ala18Ser
NM_201397.1:c.52G>T	NP_958799.1:p.Ala18Ser
NM_000581.3:c.52G>T	NP_000572.2:p.Ala18Ser
NM_001329455.1:c.52G>T	NP_001316384.1:p.Ala18Ser
NM_001329502.1:c.52G>T	NP_001316431.1:p.Ala18Ser
NM_001329503.1:c.52G>T	NP_001316432.1:p.Ala18Ser
NM_201397.2:c.52G>T	NP_958799.1:p.Ala18Ser
NM_000581.4:c.52G>T MANE Select	NP_000572.2:p.Ala18Ser
NM_001329502.2:c.52G>T	NP_001316431.1:p.Ala18Ser
NM_001329503.2:c.52G>T	NP_001316432.1:p.Ala18Ser
NM_201397.3:c.52G>T	NP_958799.1:p.Ala18Ser
NM_001329455.2:c.52G>T	NP_001316384.1:p.Ala18Ser