Canonical Allele Identifier: CA10459053
Community Standard Title: NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77998615A>G , CM000685.2:g.77998615A>G GRCh38
NC_000023.10:g.77254112A>G , CM000685.1:g.77254112A>G GRCh37
NC_000023.9:g.77140768A>G NCBI36
NG_013224.2:g.92919A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000052.7:c.1474A>G (ATP7A) MANE Select NP_000043.4:p.Ile492Val
ENST00000341514.11:c.1474A>G (ATP7A) MANE Select ENSP00000345728.6:p.Ile492Val
NM_000052.6:c.1474A>G (ATP7A) NP_000043.4:p.Ile492Val
NM_001282224.1:c.1474A>G (ATP7A) NP_001269153.1:p.Ile492Val
NM_001282224.2:c.1474A>G (ATP7A) NP_001269153.1:p.Ile492Val
NR_104109.1:n.321+26854A>G (ATP7A)
NR_104109.2:n.284+26854A>G (ATP7A)
ENST00000341514.10:c.1474A>G (ATP7A) ENSP00000345728.6:p.Ile492Val
ENST00000343533.10:c.1504A>G (ATP7A) ENSP00000343026.6:p.Ile502Val
ENST00000343533.9:c.1474A>G (ATP7A) ENSP00000343026.5:p.Ile492Val
ENST00000350425.5:c.*647A>G (ATP7A) ENSP00000343678.5:n.*647A>G
ENST00000644362.1:c.-20+87780A>G (PGK1) ENSP00000496140.1:n.-20+87780A>G
ENST00000645094.1:c.*1388A>G (ATP7A) ENSP00000493605.1:n.*1388A>G
ENST00000682742.2:n.1636A>G (ATP7A)
ENST00000685264.1:c.1474A>G (ATP7A) ENSP00000510136.1:p.Ile492Val
ENST00000685434.1:n.1508A>G (ATP7A)
ENST00000686033.1:c.1474A>G (ATP7A) ENSP00000510693.1:p.Ile492Val
ENST00000686133.1:c.1474A>G (ATP7A) ENSP00000509233.1:p.Ile492Val
ENST00000686416.1:n.1828A>G (ATP7A)
ENST00000686480.1:c.1474A>G (ATP7A) ENSP00000508978.1:p.Ile492Val
ENST00000686515.1:n.1614A>G (ATP7A)
ENST00000686543.1:c.1474A>G (ATP7A) ENSP00000509477.1:p.Ile492Val
ENST00000686688.1:c.1474A>G (ATP7A) ENSP00000509416.1:p.Ile492Val
ENST00000686999.1:n.1785A>G (ATP7A)
ENST00000687086.1:c.1474A>G (ATP7A) ENSP00000509566.1:p.Ile492Val
ENST00000687416.1:c.1474A>G (ATP7A) ENSP00000510310.1:p.Ile492Val
ENST00000687628.1:n.1575A>G (ATP7A)
ENST00000688249.1:c.1474A>G (ATP7A) ENSP00000510644.1:p.Ile492Val
ENST00000688338.1:c.1474A>G (ATP7A) ENSP00000508672.1:p.Ile492Val
ENST00000688746.1:n.1626A>G (ATP7A)
ENST00000689530.1:c.1474A>G (ATP7A) ENSP00000509707.1:p.Ile492Val
ENST00000689541.1:n.1783A>G (ATP7A)
ENST00000689649.1:c.1474A>G (ATP7A) ENSP00000509277.1:p.Ile492Val
ENST00000689767.1:c.1474A>G (ATP7A) ENSP00000509406.1:p.Ile492Val
ENST00000689872.1:c.1474A>G (ATP7A) ENSP00000509373.1:p.Ile492Val
ENST00000691456.1:n.1765A>G (ATP7A)
ENST00000692110.1:c.1390A>G (ATP7A) ENSP00000509366.1:p.Ile464Val
ENST00000692908.1:c.1474A>G (ATP7A) ENSP00000508627.1:p.Ile492Val
ENST00000693051.1:c.1474A>G (ATP7A) ENSP00000510332.1:p.Ile492Val
ENST00000693387.1:c.*1403A>G (ATP7A) ENSP00000508732.1:n.*1403A>G
ENST00000693398.1:c.1474A>G (ATP7A) ENSP00000510089.1:p.Ile492Val