Canonical Allele Identifier: CA331095169

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1199899
• ClinVar RCV Id: RCV001564735
• dbSNP Id: rs113529215
• gnomAD v2: X-77264335-C-A
• gnomAD v3: X-78008838-C-A
• gnomAD v4: X-78008838-C-A
• MyVariant Identifiers: chrX:g.77264335C>A (hg19) ; chrX:g.78008838C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78008838C>A , CM000685.2:g.78008838C>A	GRCh38
NC_000023.10:g.77264335C>A , CM000685.1:g.77264335C>A	GRCh37
NC_000023.9:g.77150991C>A	NCBI36
NG_013224.2:g.103142C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1738-264C>A (ATP7A)	ENSP00000343026.6:n.1738-264C>A
ENST00000682742.2:n.1870-264C>A (ATP7A)
ENST00000685264.1:c.1708-264C>A (ATP7A)	ENSP00000510136.1:n.1708-264C>A
ENST00000685434.1:n.1742-264C>A (ATP7A)
ENST00000686033.1:c.1708-264C>A (ATP7A)	ENSP00000510693.1:n.1708-264C>A
ENST00000686133.1:c.1708-264C>A (ATP7A)	ENSP00000509233.1:n.1708-264C>A
ENST00000686416.1:n.2062-264C>A (ATP7A)
ENST00000686480.1:c.1708-264C>A (ATP7A)	ENSP00000508978.1:n.1708-264C>A
ENST00000686515.1:n.1848-264C>A (ATP7A)
ENST00000686543.1:c.1708-264C>A (ATP7A)	ENSP00000509477.1:n.1708-264C>A
ENST00000686688.1:c.1708-264C>A (ATP7A)	ENSP00000509416.1:n.1708-264C>A
ENST00000686999.1:n.2019-264C>A (ATP7A)
ENST00000687086.1:c.1708-264C>A (ATP7A)	ENSP00000509566.1:n.1708-264C>A
ENST00000687628.1:n.1809-264C>A (ATP7A)
ENST00000688746.1:n.1860-264C>A (ATP7A)
ENST00000689530.1:c.1708-264C>A (ATP7A)	ENSP00000509707.1:n.1708-264C>A
ENST00000689541.1:n.2017-264C>A (ATP7A)
ENST00000689649.1:c.1708-264C>A (ATP7A)	ENSP00000509277.1:n.1708-264C>A
ENST00000689767.1:c.1801-264C>A (ATP7A)	ENSP00000509406.1:n.1801-264C>A
ENST00000689872.1:c.1708-264C>A (ATP7A)	ENSP00000509373.1:n.1708-264C>A
ENST00000692110.1:c.1624-264C>A (ATP7A)	ENSP00000509366.1:n.1624-264C>A
ENST00000692908.1:c.1708-264C>A (ATP7A)	ENSP00000508627.1:n.1708-264C>A
ENST00000693387.1:c.*1637-264C>A (ATP7A)	ENSP00000508732.1:n.*1637-264C>A
ENST00000693398.1:c.1708-264C>A (ATP7A)	ENSP00000510089.1:n.1708-264C>A
ENST00000341514.11:c.1708-264C>A (ATP7A) MANE Select	ENSP00000345728.6:n.1708-264C>A
ENST00000644362.1:c.-20+98003C>A (PGK1)	ENSP00000496140.1:n.-20+98003C>A
ENST00000645094.1:c.*1622-264C>A (ATP7A)	ENSP00000493605.1:n.*1622-264C>A
ENST00000341514.10:c.1708-264C>A (ATP7A)	ENSP00000345728.6:n.1708-264C>A
ENST00000343533.9:c.1708-264C>A (ATP7A)	ENSP00000343026.5:n.1708-264C>A
ENST00000350425.5:c.*881-264C>A (ATP7A)	ENSP00000343678.5:n.*881-264C>A
NM_000052.6:c.1708-264C>A (ATP7A)	NP_000043.4:n.1708-264C>A
NM_001282224.1:c.1708-264C>A (ATP7A)	NP_001269153.1:n.1708-264C>A
NR_104109.1:n.322-22562C>A (ATP7A)
NM_000052.7:c.1708-264C>A (ATP7A) MANE Select	NP_000043.4:n.1708-264C>A
NR_104109.2:n.285-22562C>A (ATP7A)
NM_001282224.2:c.1708-264C>A (ATP7A)	NP_001269153.1:n.1708-264C>A