Canonical Allele Identifier: CA207130

Linked Data

ClinVar Variation Id: 198987
dbSNP Id: rs146692150
gnomAD v2: X-77267069-A-G
gnomAD v3: X-78011572-A-G
gnomAD v4: X-78011572-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78011572A>G , CM000685.2:g.78011572A>G GRCh38
NC_000023.10:g.77267069A>G , CM000685.1:g.77267069A>G GRCh37
NC_000023.9:g.77153725A>G NCBI36
NG_013224.2:g.105876A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000343533.10:c.2100A>G (ATP7A) ENSP00000343026.6:p.Glu700=
ENST00000682475.1:n.721A>G (ATP7A)
ENST00000685264.1:c.2070A>G (ATP7A) ENSP00000510136.1:p.Glu690=
ENST00000686033.1:c.2070A>G (ATP7A) ENSP00000510693.1:p.Glu690=
ENST00000686133.1:c.2070A>G (ATP7A) ENSP00000509233.1:p.Glu690=
ENST00000686255.1:n.1101A>G (ATP7A)
ENST00000686480.1:c.2070A>G (ATP7A) ENSP00000508978.1:p.Glu690=
ENST00000686515.1:n.2210A>G (ATP7A)
ENST00000686543.1:c.2070A>G (ATP7A) ENSP00000509477.1:p.Glu690=
ENST00000686688.1:c.2070A>G (ATP7A) ENSP00000509416.1:p.Glu690=
ENST00000686999.1:n.2381A>G (ATP7A)
ENST00000687086.1:c.2070A>G (ATP7A) ENSP00000509566.1:p.Glu690=
ENST00000687628.1:n.4279A>G (ATP7A)
ENST00000688746.1:n.2222A>G (ATP7A)
ENST00000689514.1:n.112A>G (ATP7A)
ENST00000689530.1:c.2070A>G (ATP7A) ENSP00000509707.1:p.Glu690=
ENST00000689649.1:c.2070A>G (ATP7A) ENSP00000509277.1:p.Glu690=
ENST00000689767.1:c.2163A>G (ATP7A) ENSP00000509406.1:p.Glu721=
ENST00000689872.1:c.*19A>G (ATP7A) ENSP00000509373.1:n.*19A>G
ENST00000692110.1:c.1986A>G (ATP7A) ENSP00000509366.1:p.Glu662=
ENST00000692908.1:c.2070A>G (ATP7A) ENSP00000508627.1:p.Glu690=
ENST00000693398.1:c.2070A>G (ATP7A) ENSP00000510089.1:p.Glu690=
ENST00000341514.11:c.2070A>G (ATP7A) MANE Select ENSP00000345728.6:p.Glu690=
ENST00000644362.1:c.-19-98295A>G (PGK1) ENSP00000496140.1:n.-19-98295A>G
ENST00000645094.1:c.*1984A>G (ATP7A) ENSP00000493605.1:n.*1984A>G
ENST00000341514.10:c.2070A>G (ATP7A) ENSP00000345728.6:p.Glu690=
ENST00000343533.9:c.2070A>G (ATP7A) ENSP00000343026.5:p.Glu690=
ENST00000350425.5:c.*1243A>G (ATP7A) ENSP00000343678.5:n.*1243A>G
NM_000052.6:c.2070A>G (ATP7A) NP_000043.4:p.Glu690=
NM_001282224.1:c.2070A>G (ATP7A) NP_001269153.1:p.Glu690=
NR_104109.1:n.322-19828A>G (ATP7A)
NM_000052.7:c.2070A>G (ATP7A) MANE Select NP_000043.4:p.Glu690=
NR_104109.2:n.285-19828A>G (ATP7A)
NM_001282224.2:c.2070A>G (ATP7A) NP_001269153.1:p.Glu690=