Canonical Allele Identifier: CA2439111616

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78046381T= , CM000685.2:g.78046381T=	GRCh38
NC_000023.10:g.77301878T= , CM000685.1:g.77301878T=	GRCh37
NC_000023.9:g.77188534T=	NCBI36
NG_013224.2:g.140685T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.4314T= (ATP7A) MANE Select	NP_000043.4:p.Val1438=
ENST00000341514.11:c.4314T= (ATP7A) MANE Select	ENSP00000345728.6:p.Val1438=
NM_000052.6:c.4314T= (ATP7A)	NP_000043.4:p.Val1438=
NM_001282224.1:c.4080T= (ATP7A)	NP_001269153.1:p.Val1360=
NM_001282224.2:c.4080T= (ATP7A)	NP_001269153.1:p.Val1360=
NR_104109.1:n.1524T= (ATP7A)
NR_104109.2:n.1487T= (ATP7A)
ENST00000341514.10:c.4314T= (ATP7A)	ENSP00000345728.6:p.Val1438=
ENST00000343533.10:c.4344T= (ATP7A)	ENSP00000343026.6:p.Val1448=
ENST00000343533.9:c.4080T= (ATP7A)	ENSP00000343026.5:p.Val1360=
ENST00000350425.5:c.*3487T= (ATP7A)	ENSP00000343678.5:n.*3487T=
ENST00000644362.1:c.-19-63486T= (PGK1)	ENSP00000496140.1:n.-19-63486T=
ENST00000682475.1:n.2731T= (ATP7A)
ENST00000685033.1:c.1578T= (ATP7A)	ENSP00000509269.1:p.Val526=
ENST00000685264.1:c.4314T= (ATP7A)	ENSP00000510136.1:p.Val1438=
ENST00000686033.1:c.4119T= (ATP7A)	ENSP00000510693.1:p.Val1373=
ENST00000686133.1:c.4314T= (ATP7A)	ENSP00000509233.1:p.Val1438=
ENST00000686255.1:n.3345T= (ATP7A)
ENST00000686543.1:c.4080T= (ATP7A)	ENSP00000509477.1:p.Val1360=
ENST00000687086.1:c.4314T= (ATP7A)	ENSP00000509566.1:p.Val1438=
ENST00000689083.1:n.1609T= (ATP7A)
ENST00000689767.1:c.4407T= (ATP7A)	ENSP00000509406.1:p.Val1469=
ENST00000692908.1:c.4080T= (ATP7A)	ENSP00000508627.1:p.Val1360=