Canonical Allele Identifier: CA413598055
Community Standard Title: NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78011251C>T , CM000685.2:g.78011251C>T GRCh38
NC_000023.10:g.77266748C>T , CM000685.1:g.77266748C>T GRCh37
NC_000023.9:g.77153404C>T NCBI36
NG_013224.2:g.105555C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000052.7:c.1945C>T (ATP7A) MANE Select NP_000043.4:p.Gln649Ter
ENST00000341514.11:c.1945C>T (ATP7A) MANE Select ENSP00000345728.6:p.Gln649Ter
NM_000052.6:c.1945C>T (ATP7A) NP_000043.4:p.Gln649Ter
NM_001282224.1:c.1945C>T (ATP7A) NP_001269153.1:p.Gln649Ter
NM_001282224.2:c.1945C>T (ATP7A) NP_001269153.1:p.Gln649Ter
NR_104109.1:n.322-20149C>T (ATP7A)
NR_104109.2:n.285-20149C>T (ATP7A)
ENST00000341514.10:c.1945C>T (ATP7A) ENSP00000345728.6:p.Gln649Ter
ENST00000343533.10:c.1975C>T (ATP7A) ENSP00000343026.6:p.Gln659Ter
ENST00000343533.9:c.1945C>T (ATP7A) ENSP00000343026.5:p.Gln649Ter
ENST00000350425.5:c.*1118C>T (ATP7A) ENSP00000343678.5:n.*1118C>T
ENST00000644362.1:c.-19-98616C>T (PGK1) ENSP00000496140.1:n.-19-98616C>T
ENST00000645094.1:c.*1859C>T (ATP7A) ENSP00000493605.1:n.*1859C>T
ENST00000682475.1:n.400C>T (ATP7A)
ENST00000685264.1:c.1945C>T (ATP7A) ENSP00000510136.1:p.Gln649Ter
ENST00000686033.1:c.1945C>T (ATP7A) ENSP00000510693.1:p.Gln649Ter
ENST00000686133.1:c.1945C>T (ATP7A) ENSP00000509233.1:p.Gln649Ter
ENST00000686255.1:n.780C>T (ATP7A)
ENST00000686480.1:c.1945C>T (ATP7A) ENSP00000508978.1:p.Gln649Ter
ENST00000686515.1:n.2085C>T (ATP7A)
ENST00000686543.1:c.1945C>T (ATP7A) ENSP00000509477.1:p.Gln649Ter
ENST00000686688.1:c.1945C>T (ATP7A) ENSP00000509416.1:p.Gln649Ter
ENST00000686999.1:n.2256C>T (ATP7A)
ENST00000687086.1:c.1945C>T (ATP7A) ENSP00000509566.1:p.Gln649Ter
ENST00000687628.1:n.3958C>T (ATP7A)
ENST00000688746.1:n.2097C>T (ATP7A)
ENST00000689530.1:c.1945C>T (ATP7A) ENSP00000509707.1:p.Gln649Ter
ENST00000689649.1:c.1945C>T (ATP7A) ENSP00000509277.1:p.Gln649Ter
ENST00000689767.1:c.2038C>T (ATP7A) ENSP00000509406.1:p.Gln680Ter
ENST00000689872.1:c.1870-198C>T (ATP7A) ENSP00000509373.1:n.1870-198C>T
ENST00000692110.1:c.1861C>T (ATP7A) ENSP00000509366.1:p.Gln621Ter
ENST00000692908.1:c.1945C>T (ATP7A) ENSP00000508627.1:p.Gln649Ter
ENST00000693398.1:c.1945C>T (ATP7A) ENSP00000510089.1:p.Gln649Ter