Canonical Allele Identifier: CA2439107621

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033648T= , CM000685.2:g.78033648T=	GRCh38
NC_000023.10:g.77289146T= , CM000685.1:g.77289146T=	GRCh37
NC_000023.9:g.77175802T=	NCBI36
NG_013224.2:g.127952T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3368T= (ATP7A)	ENSP00000343026.6:p.Val1123=
ENST00000682475.1:n.1755T= (ATP7A)
ENST00000685033.1:c.602T= (ATP7A)	ENSP00000509269.1:p.Val201=
ENST00000685264.1:c.3338T= (ATP7A)	ENSP00000510136.1:p.Val1113=
ENST00000686033.1:c.3143T= (ATP7A)	ENSP00000510693.1:p.Val1048=
ENST00000686133.1:c.3338T= (ATP7A)	ENSP00000509233.1:p.Val1113=
ENST00000686255.1:n.2369T= (ATP7A)
ENST00000686543.1:c.3104T= (ATP7A)	ENSP00000509477.1:p.Val1035=
ENST00000687086.1:c.3338T= (ATP7A)	ENSP00000509566.1:p.Val1113=
ENST00000689514.1:n.1380T= (ATP7A)
ENST00000689767.1:c.3431T= (ATP7A)	ENSP00000509406.1:p.Val1144=
ENST00000692908.1:c.3104T= (ATP7A)	ENSP00000508627.1:p.Val1035=
ENST00000341514.11:c.3338T= (ATP7A) MANE Select	ENSP00000345728.6:p.Val1113=
ENST00000644362.1:c.-19-76219T= (PGK1)	ENSP00000496140.1:n.-19-76219T=
ENST00000645094.1:c.*3252T= (ATP7A)	ENSP00000493605.1:n.*3252T=
ENST00000341514.10:c.3338T= (ATP7A)	ENSP00000345728.6:p.Val1113=
ENST00000343533.9:c.3104T= (ATP7A)	ENSP00000343026.5:p.Val1035=
ENST00000350425.5:c.*2511T= (ATP7A)	ENSP00000343678.5:n.*2511T=
NM_000052.6:c.3338T= (ATP7A)	NP_000043.4:p.Val1113=
NM_001282224.1:c.3104T= (ATP7A)	NP_001269153.1:p.Val1035=
NR_104109.1:n.548T= (ATP7A)
NM_000052.7:c.3338T= (ATP7A) MANE Select	NP_000043.4:p.Val1113=
NR_104109.2:n.511T= (ATP7A)
NM_001282224.2:c.3104T= (ATP7A)	NP_001269153.1:p.Val1035=