Canonical Allele Identifier: CA10459102

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1623860
• ClinVar RCV Id: RCV002110373 ; RCV003146516
• dbSNP Id: rs782444523
• ExAC: X:77264647 C / G
• gnomAD v2: X-77264647-C-G
• gnomAD v3: X-78009150-C-G
• gnomAD v4: X-78009150-C-G
• MyVariant Identifiers: chrX:g.77264647C>G (hg19) ; chrX:g.78009150C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009150C>G , CM000685.2:g.78009150C>G	GRCh38
NC_000023.10:g.77264647C>G , CM000685.1:g.77264647C>G	GRCh37
NC_000023.9:g.77151303C>G	NCBI36
NG_013224.2:g.103454C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1786C>G (ATP7A)	ENSP00000343026.6:p.Leu596Val
ENST00000682742.2:n.1918C>G (ATP7A)
ENST00000685264.1:c.1756C>G (ATP7A)	ENSP00000510136.1:p.Leu586Val
ENST00000685434.1:n.1790C>G (ATP7A)
ENST00000686033.1:c.1756C>G (ATP7A)	ENSP00000510693.1:p.Leu586Val
ENST00000686133.1:c.1756C>G (ATP7A)	ENSP00000509233.1:p.Leu586Val
ENST00000686416.1:n.2110C>G (ATP7A)
ENST00000686480.1:c.1756C>G (ATP7A)	ENSP00000508978.1:p.Leu586Val
ENST00000686515.1:n.1896C>G (ATP7A)
ENST00000686543.1:c.1756C>G (ATP7A)	ENSP00000509477.1:p.Leu586Val
ENST00000686688.1:c.1756C>G (ATP7A)	ENSP00000509416.1:p.Leu586Val
ENST00000686999.1:n.2067C>G (ATP7A)
ENST00000687086.1:c.1756C>G (ATP7A)	ENSP00000509566.1:p.Leu586Val
ENST00000687628.1:n.1857C>G (ATP7A)
ENST00000688746.1:n.1908C>G (ATP7A)
ENST00000689530.1:c.1756C>G (ATP7A)	ENSP00000509707.1:p.Leu586Val
ENST00000689541.1:n.2065C>G (ATP7A)
ENST00000689649.1:c.1756C>G (ATP7A)	ENSP00000509277.1:p.Leu586Val
ENST00000689767.1:c.1849C>G (ATP7A)	ENSP00000509406.1:p.Leu617Val
ENST00000689872.1:c.1756C>G (ATP7A)	ENSP00000509373.1:p.Leu586Val
ENST00000692110.1:c.1672C>G (ATP7A)	ENSP00000509366.1:p.Leu558Val
ENST00000692908.1:c.1756C>G (ATP7A)	ENSP00000508627.1:p.Leu586Val
ENST00000693387.1:c.*1685C>G (ATP7A)	ENSP00000508732.1:n.*1685C>G
ENST00000693398.1:c.1756C>G (ATP7A)	ENSP00000510089.1:p.Leu586Val
ENST00000341514.11:c.1756C>G (ATP7A) MANE Select	ENSP00000345728.6:p.Leu586Val
ENST00000644362.1:c.-20+98315C>G (PGK1)	ENSP00000496140.1:n.-20+98315C>G
ENST00000645094.1:c.*1670C>G (ATP7A)	ENSP00000493605.1:n.*1670C>G
ENST00000341514.10:c.1756C>G (ATP7A)	ENSP00000345728.6:p.Leu586Val
ENST00000343533.9:c.1756C>G (ATP7A)	ENSP00000343026.5:p.Leu586Val
ENST00000350425.5:c.*929C>G (ATP7A)	ENSP00000343678.5:n.*929C>G
NM_000052.6:c.1756C>G (ATP7A)	NP_000043.4:p.Leu586Val
NM_001282224.1:c.1756C>G (ATP7A)	NP_001269153.1:p.Leu586Val
NR_104109.1:n.322-22250C>G (ATP7A)
NM_000052.7:c.1756C>G (ATP7A) MANE Select	NP_000043.4:p.Leu586Val
NR_104109.2:n.285-22250C>G (ATP7A)
NM_001282224.2:c.1756C>G (ATP7A)	NP_001269153.1:p.Leu586Val