Canonical Allele Identifier: CA2439107670

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033812C= , CM000685.2:g.78033812C=	GRCh38
NC_000023.10:g.77289310C= , CM000685.1:g.77289310C=	GRCh37
NC_000023.9:g.77175966C=	NCBI36
NG_013224.2:g.128116C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3532C= (ATP7A)	ENSP00000343026.6:p.Gln1178=
ENST00000682475.1:n.1919C= (ATP7A)
ENST00000685033.1:c.766C= (ATP7A)	ENSP00000509269.1:p.Gln256=
ENST00000685264.1:c.3502C= (ATP7A)	ENSP00000510136.1:p.Gln1168=
ENST00000686033.1:c.3307C= (ATP7A)	ENSP00000510693.1:p.Gln1103=
ENST00000686133.1:c.3502C= (ATP7A)	ENSP00000509233.1:p.Gln1168=
ENST00000686255.1:n.2533C= (ATP7A)
ENST00000686543.1:c.3268C= (ATP7A)	ENSP00000509477.1:p.Gln1090=
ENST00000687086.1:c.3502C= (ATP7A)	ENSP00000509566.1:p.Gln1168=
ENST00000689514.1:n.1544C= (ATP7A)
ENST00000689767.1:c.3595C= (ATP7A)	ENSP00000509406.1:p.Gln1199=
ENST00000692908.1:c.3268C= (ATP7A)	ENSP00000508627.1:p.Gln1090=
ENST00000341514.11:c.3502C= (ATP7A) MANE Select	ENSP00000345728.6:p.Gln1168=
ENST00000644362.1:c.-19-76055C= (PGK1)	ENSP00000496140.1:n.-19-76055C=
ENST00000645094.1:c.*3416C= (ATP7A)	ENSP00000493605.1:n.*3416C=
ENST00000341514.10:c.3502C= (ATP7A)	ENSP00000345728.6:p.Gln1168=
ENST00000343533.9:c.3268C= (ATP7A)	ENSP00000343026.5:p.Gln1090=
ENST00000350425.5:c.*2675C= (ATP7A)	ENSP00000343678.5:n.*2675C=
NM_000052.6:c.3502C= (ATP7A)	NP_000043.4:p.Gln1168=
NM_001282224.1:c.3268C= (ATP7A)	NP_001269153.1:p.Gln1090=
NR_104109.1:n.712C= (ATP7A)
NM_000052.7:c.3502C= (ATP7A) MANE Select	NP_000043.4:p.Gln1168=
NR_104109.2:n.675C= (ATP7A)
NM_001282224.2:c.3268C= (ATP7A)	NP_001269153.1:p.Gln1090=