Canonical Allele Identifier: CA277003
Gene: ATP7A HGNC NCBI
PGK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 210424
ClinVar RCV Id: RCV000192663
dbSNP Id: rs797045354
MyVariant Identifiers: chrX:g.77268560T>G (hg19) chrX:g.78013063T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78013063T>G , CM000685.2:g.78013063T>G GRCh38
NC_000023.10:g.77268560T>G , CM000685.1:g.77268560T>G GRCh37
NC_000023.9:g.77155216T>G NCBI36
NG_013224.2:g.107367T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000343533.10:c.2387T>G (ATP7A) ENSP00000343026.6:p.Met796Arg
ENST00000682475.1:n.823+1389T>G (ATP7A)
ENST00000685264.1:c.2357T>G (ATP7A) ENSP00000510136.1:p.Met786Arg
ENST00000686033.1:c.2357T>G (ATP7A) ENSP00000510693.1:p.Met786Arg
ENST00000686133.1:c.2357T>G (ATP7A) ENSP00000509233.1:p.Met786Arg
ENST00000686255.1:n.1388T>G (ATP7A)
ENST00000686480.1:c.2172+1389T>G (ATP7A) ENSP00000508978.1:n.2172+1389T>G
ENST00000686543.1:c.2172+1389T>G (ATP7A) ENSP00000509477.1:n.2172+1389T>G
ENST00000686688.1:c.2357T>G (ATP7A) ENSP00000509416.1:p.Met786Arg
ENST00000687086.1:c.2357T>G (ATP7A) ENSP00000509566.1:p.Met786Arg
ENST00000688746.1:n.3713T>G (ATP7A)
ENST00000689514.1:n.399T>G (ATP7A)
ENST00000689530.1:c.2357T>G (ATP7A) ENSP00000509707.1:p.Met786Arg
ENST00000689649.1:c.2357T>G (ATP7A) ENSP00000509277.1:p.Met786Arg
ENST00000689767.1:c.2450T>G (ATP7A) ENSP00000509406.1:p.Met817Arg
ENST00000689872.1:c.*306T>G (ATP7A) ENSP00000509373.1:n.*306T>G
ENST00000692908.1:c.2172+1389T>G (ATP7A) ENSP00000508627.1:n.2172+1389T>G
ENST00000693398.1:c.2357T>G (ATP7A) ENSP00000510089.1:p.Met786Arg
ENST00000341514.11:c.2357T>G (ATP7A) MANE Select ENSP00000345728.6:p.Met786Arg
ENST00000644362.1:c.-19-96804T>G (PGK1) ENSP00000496140.1:n.-19-96804T>G
ENST00000645094.1:c.*2271T>G (ATP7A) ENSP00000493605.1:n.*2271T>G
ENST00000341514.10:c.2357T>G (ATP7A) ENSP00000345728.6:p.Met786Arg
ENST00000343533.9:c.2172+1389T>G (ATP7A) ENSP00000343026.5:n.2172+1389T>G
ENST00000350425.5:c.*1530T>G (ATP7A) ENSP00000343678.5:n.*1530T>G
NM_000052.6:c.2357T>G (ATP7A) NP_000043.4:p.Met786Arg
NM_001282224.1:c.2172+1389T>G (ATP7A) NP_001269153.1:n.2172+1389T>G
NR_104109.1:n.322-18337T>G (ATP7A)
NM_000052.7:c.2357T>G (ATP7A) MANE Select NP_000043.4:p.Met786Arg
NR_104109.2:n.285-18337T>G (ATP7A)
NM_001282224.2:c.2172+1389T>G (ATP7A) NP_001269153.1:n.2172+1389T>G
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