Canonical Allele Identifier: CA413595167
Community Standard Title: NM_000052.7(ATP7A):c.1544-2A>T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78003071A>T , CM000685.2:g.78003071A>T GRCh38
NC_000023.10:g.77258568A>T , CM000685.1:g.77258568A>T GRCh37
NC_000023.9:g.77145224A>T NCBI36
NG_013224.2:g.97375A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000052.7:c.1544-2A>T (ATP7A) MANE Select NP_000043.4:n.1544-2A>T
ENST00000341514.11:c.1544-2A>T (ATP7A) MANE Select ENSP00000345728.6:n.1544-2A>T
NM_000052.6:c.1544-2A>T (ATP7A) NP_000043.4:n.1544-2A>T
NM_001282224.1:c.1544-2A>T (ATP7A) NP_001269153.1:n.1544-2A>T
NM_001282224.2:c.1544-2A>T (ATP7A) NP_001269153.1:n.1544-2A>T
NR_104109.1:n.322-28329A>T (ATP7A)
NR_104109.2:n.285-28329A>T (ATP7A)
ENST00000341514.10:c.1544-2A>T (ATP7A) ENSP00000345728.6:n.1544-2A>T
ENST00000343533.10:c.1574-2A>T (ATP7A) ENSP00000343026.6:n.1574-2A>T
ENST00000343533.9:c.1544-2A>T (ATP7A) ENSP00000343026.5:n.1544-2A>T
ENST00000350425.5:c.*717-2A>T (ATP7A) ENSP00000343678.5:n.*717-2A>T
ENST00000644362.1:c.-20+92236A>T (PGK1) ENSP00000496140.1:n.-20+92236A>T
ENST00000645094.1:c.*1458-2A>T (ATP7A) ENSP00000493605.1:n.*1458-2A>T
ENST00000682742.2:n.1706-2A>T (ATP7A)
ENST00000685264.1:c.1544-2A>T (ATP7A) ENSP00000510136.1:n.1544-2A>T
ENST00000685434.1:n.1578-2A>T (ATP7A)
ENST00000686033.1:c.1544-2A>T (ATP7A) ENSP00000510693.1:n.1544-2A>T
ENST00000686133.1:c.1544-2A>T (ATP7A) ENSP00000509233.1:n.1544-2A>T
ENST00000686416.1:n.1898-2A>T (ATP7A)
ENST00000686480.1:c.1544-2A>T (ATP7A) ENSP00000508978.1:n.1544-2A>T
ENST00000686515.1:n.1684-2A>T (ATP7A)
ENST00000686543.1:c.1544-2A>T (ATP7A) ENSP00000509477.1:n.1544-2A>T
ENST00000686688.1:c.1544-2A>T (ATP7A) ENSP00000509416.1:n.1544-2A>T
ENST00000686999.1:n.1855-2A>T (ATP7A)
ENST00000687086.1:c.1544-2A>T (ATP7A) ENSP00000509566.1:n.1544-2A>T
ENST00000687416.1:c.1544-2A>T (ATP7A) ENSP00000510310.1:n.1544-2A>T
ENST00000687628.1:n.1645-2A>T (ATP7A)
ENST00000688249.1:c.1544-2A>T (ATP7A) ENSP00000510644.1:n.1544-2A>T
ENST00000688338.1:c.*674A>T (ATP7A) ENSP00000508672.1:n.*674A>T
ENST00000688746.1:n.1696-2A>T (ATP7A)
ENST00000689530.1:c.1544-2A>T (ATP7A) ENSP00000509707.1:n.1544-2A>T
ENST00000689541.1:n.1853-2A>T (ATP7A)
ENST00000689649.1:c.1544-2A>T (ATP7A) ENSP00000509277.1:n.1544-2A>T
ENST00000689767.1:c.1637-2A>T (ATP7A) ENSP00000509406.1:n.1637-2A>T
ENST00000689872.1:c.1544-2A>T (ATP7A) ENSP00000509373.1:n.1544-2A>T
ENST00000692110.1:c.1460-2A>T (ATP7A) ENSP00000509366.1:n.1460-2A>T
ENST00000692908.1:c.1544-2A>T (ATP7A) ENSP00000508627.1:n.1544-2A>T
ENST00000693051.1:c.1544-2A>T (ATP7A) ENSP00000510332.1:n.1544-2A>T
ENST00000693387.1:c.*1473-2A>T (ATP7A) ENSP00000508732.1:n.*1473-2A>T
ENST00000693398.1:c.1544-2A>T (ATP7A) ENSP00000510089.1:n.1544-2A>T