Canonical Allele Identifier: CA2439103658

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78021012T= , CM000685.2:g.78021012T=	GRCh38
NC_000023.10:g.77276509T= , CM000685.1:g.77276509T=	GRCh37
NC_000023.9:g.77163165T=	NCBI36
NG_013224.2:g.115316T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2879T= (ATP7A)	ENSP00000343026.6:p.Ile960=
ENST00000682475.1:n.1266T= (ATP7A)
ENST00000685033.1:c.375+614T= (ATP7A)	ENSP00000509269.1:n.375+614T=
ENST00000685264.1:c.2849T= (ATP7A)	ENSP00000510136.1:p.Ile950=
ENST00000686033.1:c.2849T= (ATP7A)	ENSP00000510693.1:p.Ile950=
ENST00000686133.1:c.2849T= (ATP7A)	ENSP00000509233.1:p.Ile950=
ENST00000686255.1:n.1880T= (ATP7A)
ENST00000686543.1:c.2615T= (ATP7A)	ENSP00000509477.1:p.Ile872=
ENST00000687086.1:c.2849T= (ATP7A)	ENSP00000509566.1:p.Ile950=
ENST00000689514.1:n.891T= (ATP7A)
ENST00000689530.1:c.2849T= (ATP7A)	ENSP00000509707.1:p.Ile950=
ENST00000689767.1:c.2942T= (ATP7A)	ENSP00000509406.1:p.Ile981=
ENST00000692908.1:c.2615T= (ATP7A)	ENSP00000508627.1:p.Ile872=
ENST00000341514.11:c.2849T= (ATP7A) MANE Select	ENSP00000345728.6:p.Ile950=
ENST00000644362.1:c.-19-88855T= (PGK1)	ENSP00000496140.1:n.-19-88855T=
ENST00000645094.1:c.*2763T= (ATP7A)	ENSP00000493605.1:n.*2763T=
ENST00000341514.10:c.2849T= (ATP7A)	ENSP00000345728.6:p.Ile950=
ENST00000343533.9:c.2615T= (ATP7A)	ENSP00000343026.5:p.Ile872=
ENST00000350425.5:c.*2022T= (ATP7A)	ENSP00000343678.5:n.*2022T=
NM_000052.6:c.2849T= (ATP7A)	NP_000043.4:p.Ile950=
NM_001282224.1:c.2615T= (ATP7A)	NP_001269153.1:p.Ile872=
NR_104109.1:n.322-10388T= (ATP7A)
NM_000052.7:c.2849T= (ATP7A) MANE Select	NP_000043.4:p.Ile950=
NR_104109.2:n.285-10388T= (ATP7A)
NM_001282224.2:c.2615T= (ATP7A)	NP_001269153.1:p.Ile872=