Canonical Allele Identifier: CA10459448

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78038956G>A , CM000685.2:g.78038956G>A	GRCh38
NC_000023.10:g.77294454G>A , CM000685.1:g.77294454G>A	GRCh37
NC_000023.9:g.77181110G>A	NCBI36
NG_013224.2:g.133260G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.3632G>A (ATP7A) MANE Select	NP_000043.4:p.Arg1211Gln
ENST00000341514.11:c.3632G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Arg1211Gln
NM_000052.6:c.3632G>A (ATP7A)	NP_000043.4:p.Arg1211Gln
NM_001282224.1:c.3398G>A (ATP7A)	NP_001269153.1:p.Arg1133Gln
NM_001282224.2:c.3398G>A (ATP7A)	NP_001269153.1:p.Arg1133Gln
NR_104109.1:n.842G>A (ATP7A)
NR_104109.2:n.805G>A (ATP7A)
ENST00000341514.10:c.3632G>A (ATP7A)	ENSP00000345728.6:p.Arg1211Gln
ENST00000343533.10:c.3662G>A (ATP7A)	ENSP00000343026.6:p.Arg1221Gln
ENST00000343533.9:c.3398G>A (ATP7A)	ENSP00000343026.5:p.Arg1133Gln
ENST00000350425.5:c.*2805G>A (ATP7A)	ENSP00000343678.5:n.*2805G>A
ENST00000644362.1:c.-19-70911G>A (PGK1)	ENSP00000496140.1:n.-19-70911G>A
ENST00000645094.1:c.*3546G>A (ATP7A)	ENSP00000493605.1:n.*3546G>A
ENST00000682475.1:n.2049G>A (ATP7A)
ENST00000685033.1:c.896G>A (ATP7A)	ENSP00000509269.1:p.Arg299Gln
ENST00000685264.1:c.3632G>A (ATP7A)	ENSP00000510136.1:p.Arg1211Gln
ENST00000686033.1:c.3437G>A (ATP7A)	ENSP00000510693.1:p.Arg1146Gln
ENST00000686133.1:c.3632G>A (ATP7A)	ENSP00000509233.1:p.Arg1211Gln
ENST00000686255.1:n.2663G>A (ATP7A)
ENST00000686543.1:c.3398G>A (ATP7A)	ENSP00000509477.1:p.Arg1133Gln
ENST00000687086.1:c.3632G>A (ATP7A)	ENSP00000509566.1:p.Arg1211Gln
ENST00000689514.1:n.1674G>A (ATP7A)
ENST00000689767.1:c.3725G>A (ATP7A)	ENSP00000509406.1:p.Arg1242Gln
ENST00000692908.1:c.3398G>A (ATP7A)	ENSP00000508627.1:p.Arg1133Gln