Canonical Allele Identifier: CA413596948

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1709152
• ClinVar RCV Id: RCV002288436
• MyVariant Identifiers: chrX:g.77264638G>C (hg19) ; chrX:g.78009141G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009141G>C , CM000685.2:g.78009141G>C	GRCh38
NC_000023.10:g.77264638G>C , CM000685.1:g.77264638G>C	GRCh37
NC_000023.9:g.77151294G>C	NCBI36
NG_013224.2:g.103445G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1777G>C (ATP7A)	ENSP00000343026.6:p.Glu593Gln
ENST00000682742.2:n.1909G>C (ATP7A)
ENST00000685264.1:c.1747G>C (ATP7A)	ENSP00000510136.1:p.Glu583Gln
ENST00000685434.1:n.1781G>C (ATP7A)
ENST00000686033.1:c.1747G>C (ATP7A)	ENSP00000510693.1:p.Glu583Gln
ENST00000686133.1:c.1747G>C (ATP7A)	ENSP00000509233.1:p.Glu583Gln
ENST00000686416.1:n.2101G>C (ATP7A)
ENST00000686480.1:c.1747G>C (ATP7A)	ENSP00000508978.1:p.Glu583Gln
ENST00000686515.1:n.1887G>C (ATP7A)
ENST00000686543.1:c.1747G>C (ATP7A)	ENSP00000509477.1:p.Glu583Gln
ENST00000686688.1:c.1747G>C (ATP7A)	ENSP00000509416.1:p.Glu583Gln
ENST00000686999.1:n.2058G>C (ATP7A)
ENST00000687086.1:c.1747G>C (ATP7A)	ENSP00000509566.1:p.Glu583Gln
ENST00000687628.1:n.1848G>C (ATP7A)
ENST00000688746.1:n.1899G>C (ATP7A)
ENST00000689530.1:c.1747G>C (ATP7A)	ENSP00000509707.1:p.Glu583Gln
ENST00000689541.1:n.2056G>C (ATP7A)
ENST00000689649.1:c.1747G>C (ATP7A)	ENSP00000509277.1:p.Glu583Gln
ENST00000689767.1:c.1840G>C (ATP7A)	ENSP00000509406.1:p.Glu614Gln
ENST00000689872.1:c.1747G>C (ATP7A)	ENSP00000509373.1:p.Glu583Gln
ENST00000692110.1:c.1663G>C (ATP7A)	ENSP00000509366.1:p.Glu555Gln
ENST00000692908.1:c.1747G>C (ATP7A)	ENSP00000508627.1:p.Glu583Gln
ENST00000693387.1:c.*1676G>C (ATP7A)	ENSP00000508732.1:n.*1676G>C
ENST00000693398.1:c.1747G>C (ATP7A)	ENSP00000510089.1:p.Glu583Gln
ENST00000341514.11:c.1747G>C (ATP7A) MANE Select	ENSP00000345728.6:p.Glu583Gln
ENST00000644362.1:c.-20+98306G>C (PGK1)	ENSP00000496140.1:n.-20+98306G>C
ENST00000645094.1:c.*1661G>C (ATP7A)	ENSP00000493605.1:n.*1661G>C
ENST00000341514.10:c.1747G>C (ATP7A)	ENSP00000345728.6:p.Glu583Gln
ENST00000343533.9:c.1747G>C (ATP7A)	ENSP00000343026.5:p.Glu583Gln
ENST00000350425.5:c.*920G>C (ATP7A)	ENSP00000343678.5:n.*920G>C
NM_000052.6:c.1747G>C (ATP7A)	NP_000043.4:p.Glu583Gln
NM_001282224.1:c.1747G>C (ATP7A)	NP_001269153.1:p.Glu583Gln
NR_104109.1:n.322-22259G>C (ATP7A)
NM_000052.7:c.1747G>C (ATP7A) MANE Select	NP_000043.4:p.Glu583Gln
NR_104109.2:n.285-22259G>C (ATP7A)
NM_001282224.2:c.1747G>C (ATP7A)	NP_001269153.1:p.Glu583Gln