Canonical Allele Identifier: CA517074151

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2923768
• ClinVar RCV Id: RCV003783326
• gnomAD v4: X-78033745-A-G
• MyVariant Identifiers: chrX:g.77289243A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033745A>G , CM000685.2:g.78033745A>G	GRCh38
NC_000023.10:g.77289243A>G , CM000685.1:g.77289243A>G	GRCh37
NC_000023.9:g.77175899A>G	NCBI36
NG_013224.2:g.128049A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3465A>G (ATP7A)	ENSP00000343026.6:p.Ala1155=
ENST00000682475.1:n.1852A>G (ATP7A)
ENST00000685033.1:c.699A>G (ATP7A)	ENSP00000509269.1:p.Ala233=
ENST00000685264.1:c.3435A>G (ATP7A)	ENSP00000510136.1:p.Ala1145=
ENST00000686033.1:c.3240A>G (ATP7A)	ENSP00000510693.1:p.Ala1080=
ENST00000686133.1:c.3435A>G (ATP7A)	ENSP00000509233.1:p.Ala1145=
ENST00000686255.1:n.2466A>G (ATP7A)
ENST00000686543.1:c.3201A>G (ATP7A)	ENSP00000509477.1:p.Ala1067=
ENST00000687086.1:c.3435A>G (ATP7A)	ENSP00000509566.1:p.Ala1145=
ENST00000689514.1:n.1477A>G (ATP7A)
ENST00000689767.1:c.3528A>G (ATP7A)	ENSP00000509406.1:p.Ala1176=
ENST00000692908.1:c.3201A>G (ATP7A)	ENSP00000508627.1:p.Ala1067=
ENST00000341514.11:c.3435A>G (ATP7A) MANE Select	ENSP00000345728.6:p.Ala1145=
ENST00000644362.1:c.-19-76122A>G (PGK1)	ENSP00000496140.1:n.-19-76122A>G
ENST00000645094.1:c.*3349A>G (ATP7A)	ENSP00000493605.1:n.*3349A>G
ENST00000341514.10:c.3435A>G (ATP7A)	ENSP00000345728.6:p.Ala1145=
ENST00000343533.9:c.3201A>G (ATP7A)	ENSP00000343026.5:p.Ala1067=
ENST00000350425.5:c.*2608A>G (ATP7A)	ENSP00000343678.5:n.*2608A>G
NM_000052.6:c.3435A>G (ATP7A)	NP_000043.4:p.Ala1145=
NM_001282224.1:c.3201A>G (ATP7A)	NP_001269153.1:p.Ala1067=
NR_104109.1:n.645A>G (ATP7A)
NM_000052.7:c.3435A>G (ATP7A) MANE Select	NP_000043.4:p.Ala1145=
NR_104109.2:n.608A>G (ATP7A)
NM_001282224.2:c.3201A>G (ATP7A)	NP_001269153.1:p.Ala1067=