Canonical Allele Identifier: CA413599530

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78013078T>C , CM000685.2:g.78013078T>C GRCh38
NC_000023.10:g.77268575T>C , CM000685.1:g.77268575T>C GRCh37
NC_000023.9:g.77155231T>C NCBI36
NG_013224.2:g.107382T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343533.10:c.2402T>C (ATP7A) ENSP00000343026.6:p.Ile801Thr
ENST00000682475.1:n.823+1404T>C (ATP7A)
ENST00000685264.1:c.2372T>C (ATP7A) ENSP00000510136.1:p.Ile791Thr
ENST00000686033.1:c.2372T>C (ATP7A) ENSP00000510693.1:p.Ile791Thr
ENST00000686133.1:c.2372T>C (ATP7A) ENSP00000509233.1:p.Ile791Thr
ENST00000686255.1:n.1403T>C (ATP7A)
ENST00000686480.1:c.2172+1404T>C (ATP7A) ENSP00000508978.1:n.2172+1404T>C
ENST00000686543.1:c.2172+1404T>C (ATP7A) ENSP00000509477.1:n.2172+1404T>C
ENST00000686688.1:c.2372T>C (ATP7A) ENSP00000509416.1:p.Ile791Thr
ENST00000687086.1:c.2372T>C (ATP7A) ENSP00000509566.1:p.Ile791Thr
ENST00000688746.1:n.3728T>C (ATP7A)
ENST00000689514.1:n.414T>C (ATP7A)
ENST00000689530.1:c.2372T>C (ATP7A) ENSP00000509707.1:p.Ile791Thr
ENST00000689649.1:c.2372T>C (ATP7A) ENSP00000509277.1:p.Ile791Thr
ENST00000689767.1:c.2465T>C (ATP7A) ENSP00000509406.1:p.Ile822Thr
ENST00000689872.1:c.*321T>C (ATP7A) ENSP00000509373.1:n.*321T>C
ENST00000692908.1:c.2172+1404T>C (ATP7A) ENSP00000508627.1:n.2172+1404T>C
ENST00000693398.1:c.2372T>C (ATP7A) ENSP00000510089.1:p.Ile791Thr
ENST00000341514.11:c.2372T>C (ATP7A) MANE Select ENSP00000345728.6:p.Ile791Thr
ENST00000644362.1:c.-19-96789T>C (PGK1) ENSP00000496140.1:n.-19-96789T>C
ENST00000645094.1:c.*2286T>C (ATP7A) ENSP00000493605.1:n.*2286T>C
ENST00000341514.10:c.2372T>C (ATP7A) ENSP00000345728.6:p.Ile791Thr
ENST00000343533.9:c.2172+1404T>C (ATP7A) ENSP00000343026.5:n.2172+1404T>C
ENST00000350425.5:c.*1545T>C (ATP7A) ENSP00000343678.5:n.*1545T>C
NM_000052.6:c.2372T>C (ATP7A) NP_000043.4:p.Ile791Thr
NM_001282224.1:c.2172+1404T>C (ATP7A) NP_001269153.1:n.2172+1404T>C
NR_104109.1:n.322-18322T>C (ATP7A)
NM_000052.7:c.2372T>C (ATP7A) MANE Select NP_000043.4:p.Ile791Thr
NR_104109.2:n.285-18322T>C (ATP7A)
NM_001282224.2:c.2172+1404T>C (ATP7A) NP_001269153.1:n.2172+1404T>C