Canonical Allele Identifier: CA10459191

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1204160
• ClinVar RCV Id: RCV001570429
• dbSNP Id: rs782729792
• ExAC: X:77267046 C / T
• gnomAD v2: X-77267046-C-T
• gnomAD v4: X-78011549-C-T
• MyVariant Identifiers: chrX:g.77267046C>T (hg19) ; chrX:g.78011549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011549C>T , CM000685.2:g.78011549C>T	GRCh38
NC_000023.10:g.77267046C>T , CM000685.1:g.77267046C>T	GRCh37
NC_000023.9:g.77153702C>T	NCBI36
NG_013224.2:g.105853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2077C>T (ATP7A)	ENSP00000343026.6:p.His693Tyr
ENST00000682475.1:n.698C>T (ATP7A)
ENST00000685264.1:c.2047C>T (ATP7A)	ENSP00000510136.1:p.His683Tyr
ENST00000686033.1:c.2047C>T (ATP7A)	ENSP00000510693.1:p.His683Tyr
ENST00000686133.1:c.2047C>T (ATP7A)	ENSP00000509233.1:p.His683Tyr
ENST00000686255.1:n.1078C>T (ATP7A)
ENST00000686480.1:c.2047C>T (ATP7A)	ENSP00000508978.1:p.His683Tyr
ENST00000686515.1:n.2187C>T (ATP7A)
ENST00000686543.1:c.2047C>T (ATP7A)	ENSP00000509477.1:p.His683Tyr
ENST00000686688.1:c.2047C>T (ATP7A)	ENSP00000509416.1:p.His683Tyr
ENST00000686999.1:n.2358C>T (ATP7A)
ENST00000687086.1:c.2047C>T (ATP7A)	ENSP00000509566.1:p.His683Tyr
ENST00000687628.1:n.4256C>T (ATP7A)
ENST00000688746.1:n.2199C>T (ATP7A)
ENST00000689514.1:n.89C>T (ATP7A)
ENST00000689530.1:c.2047C>T (ATP7A)	ENSP00000509707.1:p.His683Tyr
ENST00000689649.1:c.2047C>T (ATP7A)	ENSP00000509277.1:p.His683Tyr
ENST00000689767.1:c.2140C>T (ATP7A)	ENSP00000509406.1:p.His714Tyr
ENST00000689872.1:c.1970C>T (ATP7A)	ENSP00000509373.1:p.Pro657Leu
ENST00000692110.1:c.1963C>T (ATP7A)	ENSP00000509366.1:p.His655Tyr
ENST00000692908.1:c.2047C>T (ATP7A)	ENSP00000508627.1:p.His683Tyr
ENST00000693398.1:c.2047C>T (ATP7A)	ENSP00000510089.1:p.His683Tyr
ENST00000341514.11:c.2047C>T (ATP7A) MANE Select	ENSP00000345728.6:p.His683Tyr
ENST00000644362.1:c.-19-98318C>T (PGK1)	ENSP00000496140.1:n.-19-98318C>T
ENST00000645094.1:c.*1961C>T (ATP7A)	ENSP00000493605.1:n.*1961C>T
ENST00000341514.10:c.2047C>T (ATP7A)	ENSP00000345728.6:p.His683Tyr
ENST00000343533.9:c.2047C>T (ATP7A)	ENSP00000343026.5:p.His683Tyr
ENST00000350425.5:c.*1220C>T (ATP7A)	ENSP00000343678.5:n.*1220C>T
NM_000052.6:c.2047C>T (ATP7A)	NP_000043.4:p.His683Tyr
NM_001282224.1:c.2047C>T (ATP7A)	NP_001269153.1:p.His683Tyr
NR_104109.1:n.322-19851C>T (ATP7A)
NM_000052.7:c.2047C>T (ATP7A) MANE Select	NP_000043.4:p.His683Tyr
NR_104109.2:n.285-19851C>T (ATP7A)
NM_001282224.2:c.2047C>T (ATP7A)	NP_001269153.1:p.His683Tyr