Canonical Allele Identifier: CA2580612267

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2571470
• ClinVar RCV Id: RCV003312870

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009174dup , CM000685.2:g.78009174dup	GRCh38
NC_000023.10:g.77264671dup , CM000685.1:g.77264671dup	GRCh37
NC_000023.9:g.77151327dup	NCBI36
NG_013224.2:g.103478dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1810dup (ATP7A)	ENSP00000343026.6:p.Tyr604LeufsTer14
ENST00000682742.2:n.1942dup (ATP7A)
ENST00000685264.1:c.1780dup (ATP7A)	ENSP00000510136.1:p.Tyr594LeufsTer14
ENST00000685434.1:n.1814dup (ATP7A)
ENST00000686033.1:c.1780dup (ATP7A)	ENSP00000510693.1:p.Tyr594LeufsTer14
ENST00000686133.1:c.1780dup (ATP7A)	ENSP00000509233.1:p.Tyr594LeufsTer14
ENST00000686416.1:n.2134dup (ATP7A)
ENST00000686480.1:c.1780dup (ATP7A)	ENSP00000508978.1:p.Tyr594LeufsTer14
ENST00000686515.1:n.1920dup (ATP7A)
ENST00000686543.1:c.1780dup (ATP7A)	ENSP00000509477.1:p.Tyr594LeufsTer14
ENST00000686688.1:c.1780dup (ATP7A)	ENSP00000509416.1:p.Tyr594LeufsTer14
ENST00000686999.1:n.2091dup (ATP7A)
ENST00000687086.1:c.1780dup (ATP7A)	ENSP00000509566.1:p.Tyr594LeufsTer14
ENST00000687628.1:n.1881dup (ATP7A)
ENST00000688746.1:n.1932dup (ATP7A)
ENST00000689530.1:c.1780dup (ATP7A)	ENSP00000509707.1:p.Tyr594LeufsTer14
ENST00000689541.1:n.2089dup (ATP7A)
ENST00000689649.1:c.1780dup (ATP7A)	ENSP00000509277.1:p.Tyr594LeufsTer14
ENST00000689767.1:c.1873dup (ATP7A)	ENSP00000509406.1:p.Tyr625LeufsTer14
ENST00000689872.1:c.1780dup (ATP7A)	ENSP00000509373.1:p.Tyr594LeufsTer14
ENST00000692110.1:c.1696dup (ATP7A)	ENSP00000509366.1:p.Tyr566LeufsTer14
ENST00000692908.1:c.1780dup (ATP7A)	ENSP00000508627.1:p.Tyr594LeufsTer14
ENST00000693387.1:c.*1709dup (ATP7A)	ENSP00000508732.1:n.*1709dup
ENST00000693398.1:c.1780dup (ATP7A)	ENSP00000510089.1:p.Tyr594LeufsTer14
ENST00000341514.11:c.1780dup (ATP7A) MANE Select	ENSP00000345728.6:p.Tyr594LeufsTer14
ENST00000644362.1:c.-20+98339dup (PGK1)	ENSP00000496140.1:n.-20+98339dup
ENST00000645094.1:c.*1694dup (ATP7A)	ENSP00000493605.1:n.*1694dup
ENST00000341514.10:c.1780dup (ATP7A)	ENSP00000345728.6:p.Tyr594LeufsTer14
ENST00000343533.9:c.1780dup (ATP7A)	ENSP00000343026.5:p.Tyr594LeufsTer14
ENST00000350425.5:c.*953dup (ATP7A)	ENSP00000343678.5:n.*953dup
NM_000052.6:c.1780dup (ATP7A)	NP_000043.4:p.Tyr594LeufsTer14
NM_001282224.1:c.1780dup (ATP7A)	NP_001269153.1:p.Tyr594LeufsTer14
NR_104109.1:n.322-22226dup (ATP7A)
NM_000052.7:c.1780dup (ATP7A) MANE Select	NP_000043.4:p.Tyr594LeufsTer14
NR_104109.2:n.285-22226dup (ATP7A)
NM_001282224.2:c.1780dup (ATP7A)	NP_001269153.1:p.Tyr594LeufsTer14