Canonical Allele Identifier: CA2580101450

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1997891
• ClinVar RCV Id: RCV002810091

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77988741C>T , CM000685.2:g.77988741C>T	GRCh38
NC_000023.10:g.77244237C>T , CM000685.1:g.77244237C>T	GRCh37
NC_000023.9:g.77130893C>T	NCBI36
NG_013224.2:g.83045C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.640+10C>T (ATP7A)	ENSP00000343026.6:n.640+10C>T
ENST00000682742.2:n.772+10C>T (ATP7A)
ENST00000685208.1:n.782C>T (ATP7A)
ENST00000685264.1:c.610+10C>T (ATP7A)	ENSP00000510136.1:n.610+10C>T
ENST00000685434.1:n.728+10C>T (ATP7A)
ENST00000685885.1:c.646+10C>T (ATP7A)	ENSP00000510005.1:n.646+10C>T
ENST00000686033.1:c.610+10C>T (ATP7A)	ENSP00000510693.1:n.610+10C>T
ENST00000686133.1:c.610+10C>T (ATP7A)	ENSP00000509233.1:n.610+10C>T
ENST00000686416.1:n.964+10C>T (ATP7A)
ENST00000686480.1:c.610+10C>T (ATP7A)	ENSP00000508978.1:n.610+10C>T
ENST00000686515.1:n.750+10C>T (ATP7A)
ENST00000686543.1:c.610+10C>T (ATP7A)	ENSP00000509477.1:n.610+10C>T
ENST00000686688.1:c.610+10C>T (ATP7A)	ENSP00000509416.1:n.610+10C>T
ENST00000686999.1:n.921+10C>T (ATP7A)
ENST00000687082.1:n.738C>T (ATP7A)
ENST00000687086.1:c.610+10C>T (ATP7A)	ENSP00000509566.1:n.610+10C>T
ENST00000687325.1:n.923C>T (ATP7A)
ENST00000687416.1:c.610+10C>T (ATP7A)	ENSP00000510310.1:n.610+10C>T
ENST00000687599.1:c.610+10C>T (ATP7A)	ENSP00000508745.1:n.610+10C>T
ENST00000687628.1:n.711+10C>T (ATP7A)
ENST00000687984.1:c.610+10C>T (ATP7A)	ENSP00000510772.1:n.610+10C>T
ENST00000688249.1:c.610+10C>T (ATP7A)	ENSP00000510644.1:n.610+10C>T
ENST00000688338.1:c.610+10C>T (ATP7A)	ENSP00000508672.1:n.610+10C>T
ENST00000688746.1:n.762+10C>T (ATP7A)
ENST00000688889.1:c.*524+10C>T (ATP7A)	ENSP00000508610.1:n.*524+10C>T
ENST00000689530.1:c.610+10C>T (ATP7A)	ENSP00000509707.1:n.610+10C>T
ENST00000689541.1:n.919+10C>T (ATP7A)
ENST00000689649.1:c.610+10C>T (ATP7A)	ENSP00000509277.1:n.610+10C>T
ENST00000689767.1:c.610+10C>T (ATP7A)	ENSP00000509406.1:n.610+10C>T
ENST00000689872.1:c.610+10C>T (ATP7A)	ENSP00000509373.1:n.610+10C>T
ENST00000689891.1:c.610+10C>T (ATP7A)	ENSP00000508974.1:n.610+10C>T
ENST00000691152.1:c.610+10C>T (ATP7A)	ENSP00000508843.1:n.610+10C>T
ENST00000691456.1:n.901+10C>T (ATP7A)
ENST00000692110.1:c.610+10C>T (ATP7A)	ENSP00000509366.1:n.610+10C>T
ENST00000692908.1:c.610+10C>T (ATP7A)	ENSP00000508627.1:n.610+10C>T
ENST00000693051.1:c.610+10C>T (ATP7A)	ENSP00000510332.1:n.610+10C>T
ENST00000693387.1:c.*539+10C>T (ATP7A)	ENSP00000508732.1:n.*539+10C>T
ENST00000693398.1:c.610+10C>T (ATP7A)	ENSP00000510089.1:n.610+10C>T
ENST00000341514.11:c.610+10C>T (ATP7A) MANE Select	ENSP00000345728.6:n.610+10C>T
ENST00000644362.1:c.-20+77906C>T (PGK1)	ENSP00000496140.1:n.-20+77906C>T
ENST00000645094.1:c.*524+10C>T (ATP7A)	ENSP00000493605.1:n.*524+10C>T
ENST00000341514.10:c.610+10C>T (ATP7A)	ENSP00000345728.6:n.610+10C>T
ENST00000343533.9:c.610+10C>T (ATP7A)	ENSP00000343026.5:n.610+10C>T
ENST00000350425.5:c.610+10C>T (ATP7A)	ENSP00000343678.5:n.610+10C>T
NM_000052.6:c.610+10C>T (ATP7A)	NP_000043.4:n.610+10C>T
NM_001282224.1:c.610+10C>T (ATP7A)	NP_001269153.1:n.610+10C>T
NR_104109.1:n.321+16980C>T (ATP7A)
NM_000052.7:c.610+10C>T (ATP7A) MANE Select	NP_000043.4:n.610+10C>T
NR_104109.2:n.284+16980C>T (ATP7A)
NM_001282224.2:c.610+10C>T (ATP7A)	NP_001269153.1:n.610+10C>T