Canonical Allele Identifier: CA3071128748

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78046386T= , CM000685.2:g.78046386T=	GRCh38
NC_000023.10:g.77301883T= , CM000685.1:g.77301883T=	GRCh37
NC_000023.9:g.77188539T=	NCBI36
NG_013224.2:g.140690T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.4319T= (ATP7A) MANE Select	NP_000043.4:p.Ile1440=
ENST00000341514.11:c.4319T= (ATP7A) MANE Select	ENSP00000345728.6:p.Ile1440=
NM_000052.6:c.4319T= (ATP7A)	NP_000043.4:p.Ile1440=
NM_001282224.1:c.4085T= (ATP7A)	NP_001269153.1:p.Ile1362=
NM_001282224.2:c.4085T= (ATP7A)	NP_001269153.1:p.Ile1362=
NR_104109.1:n.1529T= (ATP7A)
NR_104109.2:n.1492T= (ATP7A)
ENST00000341514.10:c.4319T= (ATP7A)	ENSP00000345728.6:p.Ile1440=
ENST00000343533.10:c.4349T= (ATP7A)	ENSP00000343026.6:p.Ile1450=
ENST00000343533.9:c.4085T= (ATP7A)	ENSP00000343026.5:p.Ile1362=
ENST00000350425.5:c.*3492T= (ATP7A)	ENSP00000343678.5:n.*3492T=
ENST00000644362.1:c.-19-63481T= (PGK1)	ENSP00000496140.1:n.-19-63481T=
ENST00000682475.1:n.2736T= (ATP7A)
ENST00000685033.1:c.1583T= (ATP7A)	ENSP00000509269.1:p.Ile528=
ENST00000685264.1:c.4319T= (ATP7A)	ENSP00000510136.1:p.Ile1440=
ENST00000686033.1:c.4124T= (ATP7A)	ENSP00000510693.1:p.Ile1375=
ENST00000686133.1:c.4319T= (ATP7A)	ENSP00000509233.1:p.Ile1440=
ENST00000686255.1:n.3350T= (ATP7A)
ENST00000686543.1:c.4085T= (ATP7A)	ENSP00000509477.1:p.Ile1362=
ENST00000687086.1:c.4319T= (ATP7A)	ENSP00000509566.1:p.Ile1440=
ENST00000689083.1:n.1614T= (ATP7A)
ENST00000689767.1:c.4412T= (ATP7A)	ENSP00000509406.1:p.Ile1471=
ENST00000692908.1:c.4085T= (ATP7A)	ENSP00000508627.1:p.Ile1362=