Canonical Allele Identifier: CA413604048

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289197T>G (hg19) ; chrX:g.78033699T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033699T>G , CM000685.2:g.78033699T>G	GRCh38
NC_000023.10:g.77289197T>G , CM000685.1:g.77289197T>G	GRCh37
NC_000023.9:g.77175853T>G	NCBI36
NG_013224.2:g.128003T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3419T>G (ATP7A)	ENSP00000343026.6:p.Leu1140Arg
ENST00000682475.1:n.1806T>G (ATP7A)
ENST00000685033.1:c.653T>G (ATP7A)	ENSP00000509269.1:p.Leu218Arg
ENST00000685264.1:c.3389T>G (ATP7A)	ENSP00000510136.1:p.Leu1130Arg
ENST00000686033.1:c.3194T>G (ATP7A)	ENSP00000510693.1:p.Leu1065Arg
ENST00000686133.1:c.3389T>G (ATP7A)	ENSP00000509233.1:p.Leu1130Arg
ENST00000686255.1:n.2420T>G (ATP7A)
ENST00000686543.1:c.3155T>G (ATP7A)	ENSP00000509477.1:p.Leu1052Arg
ENST00000687086.1:c.3389T>G (ATP7A)	ENSP00000509566.1:p.Leu1130Arg
ENST00000689514.1:n.1431T>G (ATP7A)
ENST00000689767.1:c.3482T>G (ATP7A)	ENSP00000509406.1:p.Leu1161Arg
ENST00000692908.1:c.3155T>G (ATP7A)	ENSP00000508627.1:p.Leu1052Arg
ENST00000341514.11:c.3389T>G (ATP7A) MANE Select	ENSP00000345728.6:p.Leu1130Arg
ENST00000644362.1:c.-19-76168T>G (PGK1)	ENSP00000496140.1:n.-19-76168T>G
ENST00000645094.1:c.*3303T>G (ATP7A)	ENSP00000493605.1:n.*3303T>G
ENST00000341514.10:c.3389T>G (ATP7A)	ENSP00000345728.6:p.Leu1130Arg
ENST00000343533.9:c.3155T>G (ATP7A)	ENSP00000343026.5:p.Leu1052Arg
ENST00000350425.5:c.*2562T>G (ATP7A)	ENSP00000343678.5:n.*2562T>G
NM_000052.6:c.3389T>G (ATP7A)	NP_000043.4:p.Leu1130Arg
NM_001282224.1:c.3155T>G (ATP7A)	NP_001269153.1:p.Leu1052Arg
NR_104109.1:n.599T>G (ATP7A)
NM_000052.7:c.3389T>G (ATP7A) MANE Select	NP_000043.4:p.Leu1130Arg
NR_104109.2:n.562T>G (ATP7A)
NM_001282224.2:c.3155T>G (ATP7A)	NP_001269153.1:p.Leu1052Arg