Canonical Allele Identifier: CA10459067

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78003090G>A , CM000685.2:g.78003090G>A	GRCh38
NC_000023.10:g.77258587G>A , CM000685.1:g.77258587G>A	GRCh37
NC_000023.9:g.77145243G>A	NCBI36
NG_013224.2:g.97394G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.1561G>A (ATP7A) MANE Select	NP_000043.4:p.Val521Met
ENST00000341514.11:c.1561G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Val521Met
NM_000052.6:c.1561G>A (ATP7A)	NP_000043.4:p.Val521Met
NM_001282224.1:c.1561G>A (ATP7A)	NP_001269153.1:p.Val521Met
NM_001282224.2:c.1561G>A (ATP7A)	NP_001269153.1:p.Val521Met
NR_104109.1:n.322-28310G>A (ATP7A)
NR_104109.2:n.285-28310G>A (ATP7A)
ENST00000341514.10:c.1561G>A (ATP7A)	ENSP00000345728.6:p.Val521Met
ENST00000343533.10:c.1591G>A (ATP7A)	ENSP00000343026.6:p.Val531Met
ENST00000343533.9:c.1561G>A (ATP7A)	ENSP00000343026.5:p.Val521Met
ENST00000350425.5:c.*734G>A (ATP7A)	ENSP00000343678.5:n.*734G>A
ENST00000644362.1:c.-20+92255G>A (PGK1)	ENSP00000496140.1:n.-20+92255G>A
ENST00000645094.1:c.*1475G>A (ATP7A)	ENSP00000493605.1:n.*1475G>A
ENST00000682742.2:n.1723G>A (ATP7A)
ENST00000685264.1:c.1561G>A (ATP7A)	ENSP00000510136.1:p.Val521Met
ENST00000685434.1:n.1595G>A (ATP7A)
ENST00000686033.1:c.1561G>A (ATP7A)	ENSP00000510693.1:p.Val521Met
ENST00000686133.1:c.1561G>A (ATP7A)	ENSP00000509233.1:p.Val521Met
ENST00000686416.1:n.1915G>A (ATP7A)
ENST00000686480.1:c.1561G>A (ATP7A)	ENSP00000508978.1:p.Val521Met
ENST00000686515.1:n.1701G>A (ATP7A)
ENST00000686543.1:c.1561G>A (ATP7A)	ENSP00000509477.1:p.Val521Met
ENST00000686688.1:c.1561G>A (ATP7A)	ENSP00000509416.1:p.Val521Met
ENST00000686999.1:n.1872G>A (ATP7A)
ENST00000687086.1:c.1561G>A (ATP7A)	ENSP00000509566.1:p.Val521Met
ENST00000687416.1:c.1561G>A (ATP7A)	ENSP00000510310.1:p.Val521Met
ENST00000687628.1:n.1662G>A (ATP7A)
ENST00000688249.1:c.1561G>A (ATP7A)	ENSP00000510644.1:p.Val521Met
ENST00000688338.1:c.*693G>A (ATP7A)	ENSP00000508672.1:n.*693G>A
ENST00000688746.1:n.1713G>A (ATP7A)
ENST00000689530.1:c.1561G>A (ATP7A)	ENSP00000509707.1:p.Val521Met
ENST00000689541.1:n.1870G>A (ATP7A)
ENST00000689649.1:c.1561G>A (ATP7A)	ENSP00000509277.1:p.Val521Met
ENST00000689767.1:c.1654G>A (ATP7A)	ENSP00000509406.1:p.Val552Met
ENST00000689872.1:c.1561G>A (ATP7A)	ENSP00000509373.1:p.Val521Met
ENST00000692110.1:c.1477G>A (ATP7A)	ENSP00000509366.1:p.Val493Met
ENST00000692908.1:c.1561G>A (ATP7A)	ENSP00000508627.1:p.Val521Met
ENST00000693051.1:c.1561G>A (ATP7A)	ENSP00000510332.1:p.Val521Met
ENST00000693387.1:c.*1490G>A (ATP7A)	ENSP00000508732.1:n.*1490G>A
ENST00000693398.1:c.1561G>A (ATP7A)	ENSP00000510089.1:p.Val521Met