Canonical Allele Identifier: CA2439100589

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011536T= , CM000685.2:g.78011536T=	GRCh38
NC_000023.10:g.77267033T= , CM000685.1:g.77267033T=	GRCh37
NC_000023.9:g.77153689T=	NCBI36
NG_013224.2:g.105840T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2064T= (ATP7A)	ENSP00000343026.6:p.Phe688=
ENST00000682475.1:n.685T= (ATP7A)
ENST00000685264.1:c.2034T= (ATP7A)	ENSP00000510136.1:p.Phe678=
ENST00000686033.1:c.2034T= (ATP7A)	ENSP00000510693.1:p.Phe678=
ENST00000686133.1:c.2034T= (ATP7A)	ENSP00000509233.1:p.Phe678=
ENST00000686255.1:n.1065T= (ATP7A)
ENST00000686480.1:c.2034T= (ATP7A)	ENSP00000508978.1:p.Phe678=
ENST00000686515.1:n.2174T= (ATP7A)
ENST00000686543.1:c.2034T= (ATP7A)	ENSP00000509477.1:p.Phe678=
ENST00000686688.1:c.2034T= (ATP7A)	ENSP00000509416.1:p.Phe678=
ENST00000686999.1:n.2345T= (ATP7A)
ENST00000687086.1:c.2034T= (ATP7A)	ENSP00000509566.1:p.Phe678=
ENST00000687628.1:n.4243T= (ATP7A)
ENST00000688746.1:n.2186T= (ATP7A)
ENST00000689514.1:n.76T= (ATP7A)
ENST00000689530.1:c.2034T= (ATP7A)	ENSP00000509707.1:p.Phe678=
ENST00000689649.1:c.2034T= (ATP7A)	ENSP00000509277.1:p.Phe678=
ENST00000689767.1:c.2127T= (ATP7A)	ENSP00000509406.1:p.Phe709=
ENST00000689872.1:c.1957T= (ATP7A)	ENSP00000509373.1:p.Cys653=
ENST00000692110.1:c.1950T= (ATP7A)	ENSP00000509366.1:p.Phe650=
ENST00000692908.1:c.2034T= (ATP7A)	ENSP00000508627.1:p.Phe678=
ENST00000693398.1:c.2034T= (ATP7A)	ENSP00000510089.1:p.Phe678=
ENST00000341514.11:c.2034T= (ATP7A) MANE Select	ENSP00000345728.6:p.Phe678=
ENST00000644362.1:c.-19-98331T= (PGK1)	ENSP00000496140.1:n.-19-98331T=
ENST00000645094.1:c.*1948T= (ATP7A)	ENSP00000493605.1:n.*1948T=
ENST00000341514.10:c.2034T= (ATP7A)	ENSP00000345728.6:p.Phe678=
ENST00000343533.9:c.2034T= (ATP7A)	ENSP00000343026.5:p.Phe678=
ENST00000350425.5:c.*1207T= (ATP7A)	ENSP00000343678.5:n.*1207T=
NM_000052.6:c.2034T= (ATP7A)	NP_000043.4:p.Phe678=
NM_001282224.1:c.2034T= (ATP7A)	NP_001269153.1:p.Phe678=
NR_104109.1:n.322-19864T= (ATP7A)
NM_000052.7:c.2034T= (ATP7A) MANE Select	NP_000043.4:p.Phe678=
NR_104109.2:n.285-19864T= (ATP7A)
NM_001282224.2:c.2034T= (ATP7A)	NP_001269153.1:p.Phe678=