Canonical Allele Identifier: CA10459384

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78031404A>G , CM000685.2:g.78031404A>G	GRCh38
NC_000023.10:g.77286902A>G , CM000685.1:g.77286902A>G	GRCh37
NC_000023.9:g.77173558A>G	NCBI36
NG_013224.2:g.125708A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.3116A>G (ATP7A) MANE Select	NP_000043.4:p.Lys1039Arg
ENST00000341514.11:c.3116A>G (ATP7A) MANE Select	ENSP00000345728.6:p.Lys1039Arg
NM_000052.6:c.3116A>G (ATP7A)	NP_000043.4:p.Lys1039Arg
NM_001282224.1:c.2882A>G (ATP7A)	NP_001269153.1:p.Lys961Arg
NM_001282224.2:c.2882A>G (ATP7A)	NP_001269153.1:p.Lys961Arg
NR_104109.1:n.326A>G (ATP7A)
NR_104109.2:n.289A>G (ATP7A)
ENST00000341514.10:c.3116A>G (ATP7A)	ENSP00000345728.6:p.Lys1039Arg
ENST00000343533.10:c.3146A>G (ATP7A)	ENSP00000343026.6:p.Lys1049Arg
ENST00000343533.9:c.2882A>G (ATP7A)	ENSP00000343026.5:p.Lys961Arg
ENST00000350425.5:c.*2289A>G (ATP7A)	ENSP00000343678.5:n.*2289A>G
ENST00000644362.1:c.-19-78463A>G (PGK1)	ENSP00000496140.1:n.-19-78463A>G
ENST00000645094.1:c.*3030A>G (ATP7A)	ENSP00000493605.1:n.*3030A>G
ENST00000682475.1:n.1533A>G (ATP7A)
ENST00000685033.1:c.380A>G (ATP7A)	ENSP00000509269.1:p.Lys127Arg
ENST00000685264.1:c.3116A>G (ATP7A)	ENSP00000510136.1:p.Lys1039Arg
ENST00000686033.1:c.2921A>G (ATP7A)	ENSP00000510693.1:p.Lys974Arg
ENST00000686133.1:c.3116A>G (ATP7A)	ENSP00000509233.1:p.Lys1039Arg
ENST00000686255.1:n.2147A>G (ATP7A)
ENST00000686543.1:c.2882A>G (ATP7A)	ENSP00000509477.1:p.Lys961Arg
ENST00000687086.1:c.3116A>G (ATP7A)	ENSP00000509566.1:p.Lys1039Arg
ENST00000689514.1:n.1158A>G (ATP7A)
ENST00000689767.1:c.3209A>G (ATP7A)	ENSP00000509406.1:p.Lys1070Arg
ENST00000692908.1:c.2882A>G (ATP7A)	ENSP00000508627.1:p.Lys961Arg