Canonical Allele Identifier: CA413604776

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78040633C>G , CM000685.2:g.78040633C>G	GRCh38
NC_000023.10:g.77296131C>G , CM000685.1:g.77296131C>G	GRCh37
NC_000023.9:g.77182787C>G	NCBI36
NG_013224.2:g.134937C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.3701C>G (ATP7A) MANE Select	NP_000043.4:p.Pro1234Arg
ENST00000341514.11:c.3701C>G (ATP7A) MANE Select	ENSP00000345728.6:p.Pro1234Arg
NM_000052.6:c.3701C>G (ATP7A)	NP_000043.4:p.Pro1234Arg
NM_001282224.1:c.3467C>G (ATP7A)	NP_001269153.1:p.Pro1156Arg
NM_001282224.2:c.3467C>G (ATP7A)	NP_001269153.1:p.Pro1156Arg
NR_104109.1:n.911C>G (ATP7A)
NR_104109.2:n.874C>G (ATP7A)
ENST00000341514.10:c.3701C>G (ATP7A)	ENSP00000345728.6:p.Pro1234Arg
ENST00000343533.10:c.3731C>G (ATP7A)	ENSP00000343026.6:p.Pro1244Arg
ENST00000343533.9:c.3467C>G (ATP7A)	ENSP00000343026.5:p.Pro1156Arg
ENST00000350425.5:c.*2874C>G (ATP7A)	ENSP00000343678.5:n.*2874C>G
ENST00000644362.1:c.-19-69234C>G (PGK1)	ENSP00000496140.1:n.-19-69234C>G
ENST00000645094.1:c.*3615C>G (ATP7A)	ENSP00000493605.1:n.*3615C>G
ENST00000682475.1:n.2118C>G (ATP7A)
ENST00000685033.1:c.965C>G (ATP7A)	ENSP00000509269.1:p.Pro322Arg
ENST00000685264.1:c.3701C>G (ATP7A)	ENSP00000510136.1:p.Pro1234Arg
ENST00000686033.1:c.3506C>G (ATP7A)	ENSP00000510693.1:p.Pro1169Arg
ENST00000686133.1:c.3701C>G (ATP7A)	ENSP00000509233.1:p.Pro1234Arg
ENST00000686255.1:n.2732C>G (ATP7A)
ENST00000686543.1:c.3467C>G (ATP7A)	ENSP00000509477.1:p.Pro1156Arg
ENST00000687086.1:c.3701C>G (ATP7A)	ENSP00000509566.1:p.Pro1234Arg
ENST00000689514.1:n.1743C>G (ATP7A)
ENST00000689767.1:c.3794C>G (ATP7A)	ENSP00000509406.1:p.Pro1265Arg
ENST00000692908.1:c.3467C>G (ATP7A)	ENSP00000508627.1:p.Pro1156Arg