Canonical Allele Identifier: CA517460678

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2942547
• ClinVar RCV Id: RCV003807713
• MyVariant Identifiers: chrX:g.77267051T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011554T>C , CM000685.2:g.78011554T>C	GRCh38
NC_000023.10:g.77267051T>C , CM000685.1:g.77267051T>C	GRCh37
NC_000023.9:g.77153707T>C	NCBI36
NG_013224.2:g.105858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2082T>C (ATP7A)	ENSP00000343026.6:p.Asn694=
ENST00000682475.1:n.703T>C (ATP7A)
ENST00000685264.1:c.2052T>C (ATP7A)	ENSP00000510136.1:p.Asn684=
ENST00000686033.1:c.2052T>C (ATP7A)	ENSP00000510693.1:p.Asn684=
ENST00000686133.1:c.2052T>C (ATP7A)	ENSP00000509233.1:p.Asn684=
ENST00000686255.1:n.1083T>C (ATP7A)
ENST00000686480.1:c.2052T>C (ATP7A)	ENSP00000508978.1:p.Asn684=
ENST00000686515.1:n.2192T>C (ATP7A)
ENST00000686543.1:c.2052T>C (ATP7A)	ENSP00000509477.1:p.Asn684=
ENST00000686688.1:c.2052T>C (ATP7A)	ENSP00000509416.1:p.Asn684=
ENST00000686999.1:n.2363T>C (ATP7A)
ENST00000687086.1:c.2052T>C (ATP7A)	ENSP00000509566.1:p.Asn684=
ENST00000687628.1:n.4261T>C (ATP7A)
ENST00000688746.1:n.2204T>C (ATP7A)
ENST00000689514.1:n.94T>C (ATP7A)
ENST00000689530.1:c.2052T>C (ATP7A)	ENSP00000509707.1:p.Asn684=
ENST00000689649.1:c.2052T>C (ATP7A)	ENSP00000509277.1:p.Asn684=
ENST00000689767.1:c.2145T>C (ATP7A)	ENSP00000509406.1:p.Asn715=
ENST00000689872.1:c.*1T>C (ATP7A)	ENSP00000509373.1:n.*1T>C
ENST00000692110.1:c.1968T>C (ATP7A)	ENSP00000509366.1:p.Asn656=
ENST00000692908.1:c.2052T>C (ATP7A)	ENSP00000508627.1:p.Asn684=
ENST00000693398.1:c.2052T>C (ATP7A)	ENSP00000510089.1:p.Asn684=
ENST00000341514.11:c.2052T>C (ATP7A) MANE Select	ENSP00000345728.6:p.Asn684=
ENST00000644362.1:c.-19-98313T>C (PGK1)	ENSP00000496140.1:n.-19-98313T>C
ENST00000645094.1:c.*1966T>C (ATP7A)	ENSP00000493605.1:n.*1966T>C
ENST00000341514.10:c.2052T>C (ATP7A)	ENSP00000345728.6:p.Asn684=
ENST00000343533.9:c.2052T>C (ATP7A)	ENSP00000343026.5:p.Asn684=
ENST00000350425.5:c.*1225T>C (ATP7A)	ENSP00000343678.5:n.*1225T>C
NM_000052.6:c.2052T>C (ATP7A)	NP_000043.4:p.Asn684=
NM_001282224.1:c.2052T>C (ATP7A)	NP_001269153.1:p.Asn684=
NR_104109.1:n.322-19846T>C (ATP7A)
NM_000052.7:c.2052T>C (ATP7A) MANE Select	NP_000043.4:p.Asn684=
NR_104109.2:n.285-19846T>C (ATP7A)
NM_001282224.2:c.2052T>C (ATP7A)	NP_001269153.1:p.Asn684=