Canonical Allele Identifier: CA277113

Linked Data

ClinVar Variation Id: 210425
dbSNP Id: rs72554645

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78013089C>T , CM000685.2:g.78013089C>T GRCh38
NC_000023.10:g.77268586C>T , CM000685.1:g.77268586C>T GRCh37
NC_000023.9:g.77155242C>T NCBI36
NG_013224.2:g.107393C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343533.10:c.2413C>T (ATP7A) ENSP00000343026.6:p.Arg805Ter
ENST00000682475.1:n.823+1415C>T (ATP7A)
ENST00000685264.1:c.2383C>T (ATP7A) ENSP00000510136.1:p.Arg795Ter
ENST00000686033.1:c.2383C>T (ATP7A) ENSP00000510693.1:p.Arg795Ter
ENST00000686133.1:c.2383C>T (ATP7A) ENSP00000509233.1:p.Arg795Ter
ENST00000686255.1:n.1414C>T (ATP7A)
ENST00000686480.1:c.2172+1415C>T (ATP7A) ENSP00000508978.1:n.2172+1415C>T
ENST00000686543.1:c.2172+1415C>T (ATP7A) ENSP00000509477.1:n.2172+1415C>T
ENST00000686688.1:c.2383C>T (ATP7A) ENSP00000509416.1:p.Arg795Ter
ENST00000687086.1:c.2383C>T (ATP7A) ENSP00000509566.1:p.Arg795Ter
ENST00000688746.1:n.3739C>T (ATP7A)
ENST00000689514.1:n.425C>T (ATP7A)
ENST00000689530.1:c.2383C>T (ATP7A) ENSP00000509707.1:p.Arg795Ter
ENST00000689649.1:c.2383C>T (ATP7A) ENSP00000509277.1:p.Arg795Ter
ENST00000689767.1:c.2476C>T (ATP7A) ENSP00000509406.1:p.Arg826Ter
ENST00000689872.1:c.*332C>T (ATP7A) ENSP00000509373.1:n.*332C>T
ENST00000692908.1:c.2172+1415C>T (ATP7A) ENSP00000508627.1:n.2172+1415C>T
ENST00000693398.1:c.2383C>T (ATP7A) ENSP00000510089.1:p.Arg795Ter
ENST00000341514.11:c.2383C>T (ATP7A) MANE Select ENSP00000345728.6:p.Arg795Ter
ENST00000644362.1:c.-19-96778C>T (PGK1) ENSP00000496140.1:n.-19-96778C>T
ENST00000645094.1:c.*2297C>T (ATP7A) ENSP00000493605.1:n.*2297C>T
ENST00000341514.10:c.2383C>T (ATP7A) ENSP00000345728.6:p.Arg795Ter
ENST00000343533.9:c.2172+1415C>T (ATP7A) ENSP00000343026.5:n.2172+1415C>T
ENST00000350425.5:c.*1556C>T (ATP7A) ENSP00000343678.5:n.*1556C>T
NM_000052.6:c.2383C>T (ATP7A) NP_000043.4:p.Arg795Ter
NM_001282224.1:c.2172+1415C>T (ATP7A) NP_001269153.1:n.2172+1415C>T
NR_104109.1:n.322-18311C>T (ATP7A)
NM_000052.7:c.2383C>T (ATP7A) MANE Select NP_000043.4:p.Arg795Ter
NR_104109.2:n.285-18311C>T (ATP7A)
NM_001282224.2:c.2172+1415C>T (ATP7A) NP_001269153.1:n.2172+1415C>T