Canonical Allele Identifier: CA413600286

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77988680A>T , CM000685.2:g.77988680A>T GRCh38
NC_000023.10:g.77244176A>T , CM000685.1:g.77244176A>T GRCh37
NC_000023.9:g.77130832A>T NCBI36
NG_013224.2:g.82984A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343533.10:c.589A>T (ATP7A) ENSP00000343026.6:p.Ser197Cys
ENST00000682742.2:n.721A>T (ATP7A)
ENST00000685208.1:n.721A>T (ATP7A)
ENST00000685264.1:c.559A>T (ATP7A) ENSP00000510136.1:p.Ser187Cys
ENST00000685434.1:n.677A>T (ATP7A)
ENST00000685885.1:c.595A>T (ATP7A) ENSP00000510005.1:p.Ser199Cys
ENST00000686033.1:c.559A>T (ATP7A) ENSP00000510693.1:p.Ser187Cys
ENST00000686133.1:c.559A>T (ATP7A) ENSP00000509233.1:p.Ser187Cys
ENST00000686416.1:n.913A>T (ATP7A)
ENST00000686480.1:c.559A>T (ATP7A) ENSP00000508978.1:p.Ser187Cys
ENST00000686515.1:n.699A>T (ATP7A)
ENST00000686543.1:c.559A>T (ATP7A) ENSP00000509477.1:p.Ser187Cys
ENST00000686688.1:c.559A>T (ATP7A) ENSP00000509416.1:p.Ser187Cys
ENST00000686999.1:n.870A>T (ATP7A)
ENST00000687082.1:n.677A>T (ATP7A)
ENST00000687086.1:c.559A>T (ATP7A) ENSP00000509566.1:p.Ser187Cys
ENST00000687325.1:n.862A>T (ATP7A)
ENST00000687416.1:c.559A>T (ATP7A) ENSP00000510310.1:p.Ser187Cys
ENST00000687599.1:c.559A>T (ATP7A) ENSP00000508745.1:p.Ser187Cys
ENST00000687628.1:n.660A>T (ATP7A)
ENST00000687984.1:c.559A>T (ATP7A) ENSP00000510772.1:p.Ser187Cys
ENST00000688249.1:c.559A>T (ATP7A) ENSP00000510644.1:p.Ser187Cys
ENST00000688338.1:c.559A>T (ATP7A) ENSP00000508672.1:p.Ser187Cys
ENST00000688746.1:n.711A>T (ATP7A)
ENST00000688889.1:c.*473A>T (ATP7A) ENSP00000508610.1:n.*473A>T
ENST00000689530.1:c.559A>T (ATP7A) ENSP00000509707.1:p.Ser187Cys
ENST00000689541.1:n.868A>T (ATP7A)
ENST00000689649.1:c.559A>T (ATP7A) ENSP00000509277.1:p.Ser187Cys
ENST00000689767.1:c.559A>T (ATP7A) ENSP00000509406.1:p.Ser187Cys
ENST00000689872.1:c.559A>T (ATP7A) ENSP00000509373.1:p.Ser187Cys
ENST00000689891.1:c.559A>T (ATP7A) ENSP00000508974.1:p.Ser187Cys
ENST00000691152.1:c.559A>T (ATP7A) ENSP00000508843.1:p.Ser187Cys
ENST00000691456.1:n.850A>T (ATP7A)
ENST00000692110.1:c.559A>T (ATP7A) ENSP00000509366.1:p.Ser187Cys
ENST00000692908.1:c.559A>T (ATP7A) ENSP00000508627.1:p.Ser187Cys
ENST00000693051.1:c.559A>T (ATP7A) ENSP00000510332.1:p.Ser187Cys
ENST00000693387.1:c.*488A>T (ATP7A) ENSP00000508732.1:n.*488A>T
ENST00000693398.1:c.559A>T (ATP7A) ENSP00000510089.1:p.Ser187Cys
ENST00000341514.11:c.559A>T (ATP7A) MANE Select ENSP00000345728.6:p.Ser187Cys
ENST00000644362.1:c.-20+77845A>T (PGK1) ENSP00000496140.1:n.-20+77845A>T
ENST00000645094.1:c.*473A>T (ATP7A) ENSP00000493605.1:n.*473A>T
ENST00000341514.10:c.559A>T (ATP7A) ENSP00000345728.6:p.Ser187Cys
ENST00000343533.9:c.559A>T (ATP7A) ENSP00000343026.5:p.Ser187Cys
ENST00000350425.5:c.559A>T (ATP7A) ENSP00000343678.5:p.Ser187Cys
NM_000052.6:c.559A>T (ATP7A) NP_000043.4:p.Ser187Cys
NM_001282224.1:c.559A>T (ATP7A) NP_001269153.1:p.Ser187Cys
NR_104109.1:n.321+16919A>T (ATP7A)
NM_000052.7:c.559A>T (ATP7A) MANE Select NP_000043.4:p.Ser187Cys
NR_104109.2:n.284+16919A>T (ATP7A)
NM_001282224.2:c.559A>T (ATP7A) NP_001269153.1:p.Ser187Cys