Canonical Allele Identifier: CA413603205

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78029346G>T , CM000685.2:g.78029346G>T	GRCh38
NC_000023.10:g.77284843G>T , CM000685.1:g.77284843G>T	GRCh37
NC_000023.9:g.77171499G>T	NCBI36
NG_013224.2:g.123650G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.3013G>T (ATP7A) MANE Select	NP_000043.4:p.Gly1005Ter
ENST00000341514.11:c.3013G>T (ATP7A) MANE Select	ENSP00000345728.6:p.Gly1005Ter
NM_000052.6:c.3013G>T (ATP7A)	NP_000043.4:p.Gly1005Ter
NM_001282224.1:c.2779G>T (ATP7A)	NP_001269153.1:p.Gly927Ter
NM_001282224.2:c.2779G>T (ATP7A)	NP_001269153.1:p.Gly927Ter
NR_104109.1:n.322-2054G>T (ATP7A)
NR_104109.2:n.285-2054G>T (ATP7A)
ENST00000341514.10:c.3013G>T (ATP7A)	ENSP00000345728.6:p.Gly1005Ter
ENST00000343533.10:c.3043G>T (ATP7A)	ENSP00000343026.6:p.Gly1015Ter
ENST00000343533.9:c.2779G>T (ATP7A)	ENSP00000343026.5:p.Gly927Ter
ENST00000350425.5:c.*2186G>T (ATP7A)	ENSP00000343678.5:n.*2186G>T
ENST00000644362.1:c.-19-80521G>T (PGK1)	ENSP00000496140.1:n.-19-80521G>T
ENST00000645094.1:c.*2927G>T (ATP7A)	ENSP00000493605.1:n.*2927G>T
ENST00000682475.1:n.1430G>T (ATP7A)
ENST00000685033.1:c.376-2054G>T (ATP7A)	ENSP00000509269.1:n.376-2054G>T
ENST00000685264.1:c.3013G>T (ATP7A)	ENSP00000510136.1:p.Gly1005Ter
ENST00000686033.1:c.2917-2054G>T (ATP7A)	ENSP00000510693.1:n.2917-2054G>T
ENST00000686133.1:c.3013G>T (ATP7A)	ENSP00000509233.1:p.Gly1005Ter
ENST00000686255.1:n.2044G>T (ATP7A)
ENST00000686543.1:c.2779G>T (ATP7A)	ENSP00000509477.1:p.Gly927Ter
ENST00000687086.1:c.3013G>T (ATP7A)	ENSP00000509566.1:p.Gly1005Ter
ENST00000689514.1:n.1055G>T (ATP7A)
ENST00000689767.1:c.3106G>T (ATP7A)	ENSP00000509406.1:p.Gly1036Ter
ENST00000692908.1:c.2779G>T (ATP7A)	ENSP00000508627.1:p.Gly927Ter