Canonical Allele Identifier: CA16603290

Linked Data

ClinVar Variation Id: 377175
dbSNP Id: rs67273048

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78021030G>A , CM000685.2:g.78021030G>A GRCh38
NC_000023.10:g.77276527G>A , CM000685.1:g.77276527G>A GRCh37
NC_000023.9:g.77163183G>A NCBI36
NG_013224.2:g.115334G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343533.10:c.2897G>A (ATP7A) ENSP00000343026.6:p.Trp966Ter
ENST00000682475.1:n.1284G>A (ATP7A)
ENST00000685033.1:c.375+632G>A (ATP7A) ENSP00000509269.1:n.375+632G>A
ENST00000685264.1:c.2867G>A (ATP7A) ENSP00000510136.1:p.Trp956Ter
ENST00000686033.1:c.2867G>A (ATP7A) ENSP00000510693.1:p.Trp956Ter
ENST00000686133.1:c.2867G>A (ATP7A) ENSP00000509233.1:p.Trp956Ter
ENST00000686255.1:n.1898G>A (ATP7A)
ENST00000686543.1:c.2633G>A (ATP7A) ENSP00000509477.1:p.Trp878Ter
ENST00000687086.1:c.2867G>A (ATP7A) ENSP00000509566.1:p.Trp956Ter
ENST00000689514.1:n.909G>A (ATP7A)
ENST00000689530.1:c.2867G>A (ATP7A) ENSP00000509707.1:p.Trp956Ter
ENST00000689767.1:c.2960G>A (ATP7A) ENSP00000509406.1:p.Trp987Ter
ENST00000692908.1:c.2633G>A (ATP7A) ENSP00000508627.1:p.Trp878Ter
ENST00000341514.11:c.2867G>A (ATP7A) MANE Select ENSP00000345728.6:p.Trp956Ter
ENST00000644362.1:c.-19-88837G>A (PGK1) ENSP00000496140.1:n.-19-88837G>A
ENST00000645094.1:c.*2781G>A (ATP7A) ENSP00000493605.1:n.*2781G>A
ENST00000341514.10:c.2867G>A (ATP7A) ENSP00000345728.6:p.Trp956Ter
ENST00000343533.9:c.2633G>A (ATP7A) ENSP00000343026.5:p.Trp878Ter
ENST00000350425.5:c.*2040G>A (ATP7A) ENSP00000343678.5:n.*2040G>A
NM_000052.6:c.2867G>A (ATP7A) NP_000043.4:p.Trp956Ter
NM_001282224.1:c.2633G>A (ATP7A) NP_001269153.1:p.Trp878Ter
NR_104109.1:n.322-10370G>A (ATP7A)
NM_000052.7:c.2867G>A (ATP7A) MANE Select NP_000043.4:p.Trp956Ter
NR_104109.2:n.285-10370G>A (ATP7A)
NM_001282224.2:c.2633G>A (ATP7A) NP_001269153.1:p.Trp878Ter