Canonical Allele Identifier: CA413595129

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77998672A>T , CM000685.2:g.77998672A>T GRCh38
NC_000023.10:g.77254169A>T , CM000685.1:g.77254169A>T GRCh37
NC_000023.9:g.77140825A>T NCBI36
NG_013224.2:g.92976A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343533.10:c.1561A>T (ATP7A) ENSP00000343026.6:p.Arg521Trp
ENST00000682742.2:n.1693A>T (ATP7A)
ENST00000685264.1:c.1531A>T (ATP7A) ENSP00000510136.1:p.Arg511Trp
ENST00000685434.1:n.1565A>T (ATP7A)
ENST00000686033.1:c.1531A>T (ATP7A) ENSP00000510693.1:p.Arg511Trp
ENST00000686133.1:c.1531A>T (ATP7A) ENSP00000509233.1:p.Arg511Trp
ENST00000686416.1:n.1885A>T (ATP7A)
ENST00000686480.1:c.1531A>T (ATP7A) ENSP00000508978.1:p.Arg511Trp
ENST00000686515.1:n.1671A>T (ATP7A)
ENST00000686543.1:c.1531A>T (ATP7A) ENSP00000509477.1:p.Arg511Trp
ENST00000686688.1:c.1531A>T (ATP7A) ENSP00000509416.1:p.Arg511Trp
ENST00000686999.1:n.1842A>T (ATP7A)
ENST00000687086.1:c.1531A>T (ATP7A) ENSP00000509566.1:p.Arg511Trp
ENST00000687416.1:c.1531A>T (ATP7A) ENSP00000510310.1:p.Arg511Trp
ENST00000687628.1:n.1632A>T (ATP7A)
ENST00000688249.1:c.1531A>T (ATP7A) ENSP00000510644.1:p.Arg511Trp
ENST00000688338.1:c.1531A>T (ATP7A) ENSP00000508672.1:p.Arg511Trp
ENST00000688746.1:n.1683A>T (ATP7A)
ENST00000689530.1:c.1531A>T (ATP7A) ENSP00000509707.1:p.Arg511Trp
ENST00000689541.1:n.1840A>T (ATP7A)
ENST00000689649.1:c.1531A>T (ATP7A) ENSP00000509277.1:p.Arg511Trp
ENST00000689767.1:c.1531A>T (ATP7A) ENSP00000509406.1:p.Arg511Trp
ENST00000689872.1:c.1531A>T (ATP7A) ENSP00000509373.1:p.Arg511Trp
ENST00000691456.1:n.1822A>T (ATP7A)
ENST00000692110.1:c.1447A>T (ATP7A) ENSP00000509366.1:p.Arg483Trp
ENST00000692908.1:c.1531A>T (ATP7A) ENSP00000508627.1:p.Arg511Trp
ENST00000693051.1:c.1531A>T (ATP7A) ENSP00000510332.1:p.Arg511Trp
ENST00000693387.1:c.*1460A>T (ATP7A) ENSP00000508732.1:n.*1460A>T
ENST00000693398.1:c.1531A>T (ATP7A) ENSP00000510089.1:p.Arg511Trp
ENST00000341514.11:c.1531A>T (ATP7A) MANE Select ENSP00000345728.6:p.Arg511Trp
ENST00000644362.1:c.-20+87837A>T (PGK1) ENSP00000496140.1:n.-20+87837A>T
ENST00000645094.1:c.*1445A>T (ATP7A) ENSP00000493605.1:n.*1445A>T
ENST00000341514.10:c.1531A>T (ATP7A) ENSP00000345728.6:p.Arg511Trp
ENST00000343533.9:c.1531A>T (ATP7A) ENSP00000343026.5:p.Arg511Trp
ENST00000350425.5:c.*704A>T (ATP7A) ENSP00000343678.5:n.*704A>T
NM_000052.6:c.1531A>T (ATP7A) NP_000043.4:p.Arg511Trp
NM_001282224.1:c.1531A>T (ATP7A) NP_001269153.1:p.Arg511Trp
NR_104109.1:n.321+26911A>T (ATP7A)
NM_000052.7:c.1531A>T (ATP7A) MANE Select NP_000043.4:p.Arg511Trp
NR_104109.2:n.284+26911A>T (ATP7A)
NM_001282224.2:c.1531A>T (ATP7A) NP_001269153.1:p.Arg511Trp