Canonical Allele Identifier: CA413601000
Community Standard Title: NM_000052.7(ATP7A):c.2557G>T (p.Gly853Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78015812G>T , CM000685.2:g.78015812G>T GRCh38
NC_000023.10:g.77271309G>T , CM000685.1:g.77271309G>T GRCh37
NC_000023.9:g.77157965G>T NCBI36
NG_013224.2:g.110116G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000052.7:c.2557G>T (ATP7A) MANE Select NP_000043.4:p.Gly853Ter
ENST00000341514.11:c.2557G>T (ATP7A) MANE Select ENSP00000345728.6:p.Gly853Ter
NM_000052.6:c.2557G>T (ATP7A) NP_000043.4:p.Gly853Ter
NM_001282224.1:c.2323G>T (ATP7A) NP_001269153.1:p.Gly775Ter
NM_001282224.2:c.2323G>T (ATP7A) NP_001269153.1:p.Gly775Ter
NR_104109.1:n.322-15588G>T (ATP7A)
NR_104109.2:n.285-15588G>T (ATP7A)
ENST00000341514.10:c.2557G>T (ATP7A) ENSP00000345728.6:p.Gly853Ter
ENST00000343533.10:c.2587G>T (ATP7A) ENSP00000343026.6:p.Gly863Ter
ENST00000343533.9:c.2323G>T (ATP7A) ENSP00000343026.5:p.Gly775Ter
ENST00000350425.5:c.*1730G>T (ATP7A) ENSP00000343678.5:n.*1730G>T
ENST00000644362.1:c.-19-94055G>T (PGK1) ENSP00000496140.1:n.-19-94055G>T
ENST00000645094.1:c.*2471G>T (ATP7A) ENSP00000493605.1:n.*2471G>T
ENST00000682475.1:n.974G>T (ATP7A)
ENST00000685033.1:c.151G>T (ATP7A) ENSP00000509269.1:p.Gly51Ter
ENST00000685264.1:c.2557G>T (ATP7A) ENSP00000510136.1:p.Gly853Ter
ENST00000686033.1:c.2557G>T (ATP7A) ENSP00000510693.1:p.Gly853Ter
ENST00000686133.1:c.2557G>T (ATP7A) ENSP00000509233.1:p.Gly853Ter
ENST00000686255.1:n.1588G>T (ATP7A)
ENST00000686543.1:c.2323G>T (ATP7A) ENSP00000509477.1:p.Gly775Ter
ENST00000686688.1:c.2557G>T (ATP7A) ENSP00000509416.1:p.Gly853Ter
ENST00000687086.1:c.2557G>T (ATP7A) ENSP00000509566.1:p.Gly853Ter
ENST00000689514.1:n.599G>T (ATP7A)
ENST00000689530.1:c.2557G>T (ATP7A) ENSP00000509707.1:p.Gly853Ter
ENST00000689767.1:c.2650G>T (ATP7A) ENSP00000509406.1:p.Gly884Ter
ENST00000692908.1:c.2323G>T (ATP7A) ENSP00000508627.1:p.Gly775Ter
ENST00000693398.1:c.2557G>T (ATP7A) ENSP00000510089.1:p.Gly853Ter