Canonical Allele Identifier: CA413606159

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78046383G>C , CM000685.2:g.78046383G>C	GRCh38
NC_000023.10:g.77301880G>C , CM000685.1:g.77301880G>C	GRCh37
NC_000023.9:g.77188536G>C	NCBI36
NG_013224.2:g.140687G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.4316G>C (ATP7A) MANE Select	NP_000043.4:p.Gly1439Ala
ENST00000341514.11:c.4316G>C (ATP7A) MANE Select	ENSP00000345728.6:p.Gly1439Ala
NM_000052.6:c.4316G>C (ATP7A)	NP_000043.4:p.Gly1439Ala
NM_001282224.1:c.4082G>C (ATP7A)	NP_001269153.1:p.Gly1361Ala
NM_001282224.2:c.4082G>C (ATP7A)	NP_001269153.1:p.Gly1361Ala
NR_104109.1:n.1526G>C (ATP7A)
NR_104109.2:n.1489G>C (ATP7A)
ENST00000341514.10:c.4316G>C (ATP7A)	ENSP00000345728.6:p.Gly1439Ala
ENST00000343533.10:c.4346G>C (ATP7A)	ENSP00000343026.6:p.Gly1449Ala
ENST00000343533.9:c.4082G>C (ATP7A)	ENSP00000343026.5:p.Gly1361Ala
ENST00000350425.5:c.*3489G>C (ATP7A)	ENSP00000343678.5:n.*3489G>C
ENST00000644362.1:c.-19-63484G>C (PGK1)	ENSP00000496140.1:n.-19-63484G>C
ENST00000682475.1:n.2733G>C (ATP7A)
ENST00000685033.1:c.1580G>C (ATP7A)	ENSP00000509269.1:p.Gly527Ala
ENST00000685264.1:c.4316G>C (ATP7A)	ENSP00000510136.1:p.Gly1439Ala
ENST00000686033.1:c.4121G>C (ATP7A)	ENSP00000510693.1:p.Gly1374Ala
ENST00000686133.1:c.4316G>C (ATP7A)	ENSP00000509233.1:p.Gly1439Ala
ENST00000686255.1:n.3347G>C (ATP7A)
ENST00000686543.1:c.4082G>C (ATP7A)	ENSP00000509477.1:p.Gly1361Ala
ENST00000687086.1:c.4316G>C (ATP7A)	ENSP00000509566.1:p.Gly1439Ala
ENST00000689083.1:n.1611G>C (ATP7A)
ENST00000689767.1:c.4409G>C (ATP7A)	ENSP00000509406.1:p.Gly1470Ala
ENST00000692908.1:c.4082G>C (ATP7A)	ENSP00000508627.1:p.Gly1361Ala