Canonical Allele Identifier: CA277261
Gene: ATP7A HGNC NCBI
PGK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 210421
ClinVar RCV Id: RCV000194105
dbSNP Id: rs797045351
MyVariant Identifiers: chrX:g.77268390G>A (hg19) chrX:g.78012893G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78012893G>A , CM000685.2:g.78012893G>A GRCh38
NC_000023.10:g.77268390G>A , CM000685.1:g.77268390G>A GRCh37
NC_000023.9:g.77155046G>A NCBI36
NG_013224.2:g.107197G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343533.10:c.2217G>A (ATP7A) ENSP00000343026.6:p.Trp739Ter
ENST00000682475.1:n.823+1219G>A (ATP7A)
ENST00000685264.1:c.2187G>A (ATP7A) ENSP00000510136.1:p.Trp729Ter
ENST00000686033.1:c.2187G>A (ATP7A) ENSP00000510693.1:p.Trp729Ter
ENST00000686133.1:c.2187G>A (ATP7A) ENSP00000509233.1:p.Trp729Ter
ENST00000686255.1:n.1218G>A (ATP7A)
ENST00000686480.1:c.2172+1219G>A (ATP7A) ENSP00000508978.1:n.2172+1219G>A
ENST00000686543.1:c.2172+1219G>A (ATP7A) ENSP00000509477.1:n.2172+1219G>A
ENST00000686688.1:c.2187G>A (ATP7A) ENSP00000509416.1:p.Trp729Ter
ENST00000687086.1:c.2187G>A (ATP7A) ENSP00000509566.1:p.Trp729Ter
ENST00000688746.1:n.3543G>A (ATP7A)
ENST00000689514.1:n.229G>A (ATP7A)
ENST00000689530.1:c.2187G>A (ATP7A) ENSP00000509707.1:p.Trp729Ter
ENST00000689649.1:c.2187G>A (ATP7A) ENSP00000509277.1:p.Trp729Ter
ENST00000689767.1:c.2280G>A (ATP7A) ENSP00000509406.1:p.Trp760Ter
ENST00000689872.1:c.*136G>A (ATP7A) ENSP00000509373.1:n.*136G>A
ENST00000692908.1:c.2172+1219G>A (ATP7A) ENSP00000508627.1:n.2172+1219G>A
ENST00000693398.1:c.2187G>A (ATP7A) ENSP00000510089.1:p.Trp729Ter
ENST00000341514.11:c.2187G>A (ATP7A) MANE Select ENSP00000345728.6:p.Trp729Ter
ENST00000644362.1:c.-19-96974G>A (PGK1) ENSP00000496140.1:n.-19-96974G>A
ENST00000645094.1:c.*2101G>A (ATP7A) ENSP00000493605.1:n.*2101G>A
ENST00000341514.10:c.2187G>A (ATP7A) ENSP00000345728.6:p.Trp729Ter
ENST00000343533.9:c.2172+1219G>A (ATP7A) ENSP00000343026.5:n.2172+1219G>A
ENST00000350425.5:c.*1360G>A (ATP7A) ENSP00000343678.5:n.*1360G>A
NM_000052.6:c.2187G>A (ATP7A) NP_000043.4:p.Trp729Ter
NM_001282224.1:c.2172+1219G>A (ATP7A) NP_001269153.1:n.2172+1219G>A
NR_104109.1:n.322-18507G>A (ATP7A)
NM_000052.7:c.2187G>A (ATP7A) MANE Select NP_000043.4:p.Trp729Ter
NR_104109.2:n.285-18507G>A (ATP7A)
NM_001282224.2:c.2172+1219G>A (ATP7A) NP_001269153.1:n.2172+1219G>A
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