Canonical Allele Identifier: CA517081221

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78045558T>C , CM000685.2:g.78045558T>C	GRCh38
NC_000023.10:g.77301055T>C , CM000685.1:g.77301055T>C	GRCh37
NC_000023.9:g.77187711T>C	NCBI36
NG_013224.2:g.139862T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.4212T>C (ATP7A) MANE Select	NP_000043.4:p.Ser1404=
ENST00000341514.11:c.4212T>C (ATP7A) MANE Select	ENSP00000345728.6:p.Ser1404=
NM_000052.6:c.4212T>C (ATP7A)	NP_000043.4:p.Ser1404=
NM_001282224.1:c.3978T>C (ATP7A)	NP_001269153.1:p.Ser1326=
NM_001282224.2:c.3978T>C (ATP7A)	NP_001269153.1:p.Ser1326=
NR_104109.1:n.1422T>C (ATP7A)
NR_104109.2:n.1385T>C (ATP7A)
ENST00000341514.10:c.4212T>C (ATP7A)	ENSP00000345728.6:p.Ser1404=
ENST00000343533.10:c.4242T>C (ATP7A)	ENSP00000343026.6:p.Ser1414=
ENST00000343533.9:c.3978T>C (ATP7A)	ENSP00000343026.5:p.Ser1326=
ENST00000350425.5:c.*3385T>C (ATP7A)	ENSP00000343678.5:n.*3385T>C
ENST00000644362.1:c.-19-64309T>C (PGK1)	ENSP00000496140.1:n.-19-64309T>C
ENST00000682475.1:n.2629T>C (ATP7A)
ENST00000685033.1:c.1476T>C (ATP7A)	ENSP00000509269.1:p.Ser492=
ENST00000685264.1:c.4212T>C (ATP7A)	ENSP00000510136.1:p.Ser1404=
ENST00000686033.1:c.4017T>C (ATP7A)	ENSP00000510693.1:p.Ser1339=
ENST00000686133.1:c.4212T>C (ATP7A)	ENSP00000509233.1:p.Ser1404=
ENST00000686255.1:n.3243T>C (ATP7A)
ENST00000686543.1:c.3978T>C (ATP7A)	ENSP00000509477.1:p.Ser1326=
ENST00000687086.1:c.4212T>C (ATP7A)	ENSP00000509566.1:p.Ser1404=
ENST00000689083.1:n.1507T>C (ATP7A)
ENST00000689767.1:c.4305T>C (ATP7A)	ENSP00000509406.1:p.Ser1435=
ENST00000692908.1:c.3978T>C (ATP7A)	ENSP00000508627.1:p.Ser1326=