Canonical Allele Identifier: CA10459111

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs782038048
• ExAC: X:77264689 G / A
• gnomAD v2: X-77264689-G-A
• gnomAD v4: X-78009192-G-A
• MyVariant Identifiers: chrX:g.77264689G>A (hg19) ; chrX:g.78009192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009192G>A , CM000685.2:g.78009192G>A	GRCh38
NC_000023.10:g.77264689G>A , CM000685.1:g.77264689G>A	GRCh37
NC_000023.9:g.77151345G>A	NCBI36
NG_013224.2:g.103496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1828G>A (ATP7A)	ENSP00000343026.6:p.Ala610Thr
ENST00000682742.2:n.1960G>A (ATP7A)
ENST00000685264.1:c.1798G>A (ATP7A)	ENSP00000510136.1:p.Ala600Thr
ENST00000685434.1:n.1832G>A (ATP7A)
ENST00000686033.1:c.1798G>A (ATP7A)	ENSP00000510693.1:p.Ala600Thr
ENST00000686133.1:c.1798G>A (ATP7A)	ENSP00000509233.1:p.Ala600Thr
ENST00000686416.1:n.2152G>A (ATP7A)
ENST00000686480.1:c.1798G>A (ATP7A)	ENSP00000508978.1:p.Ala600Thr
ENST00000686515.1:n.1938G>A (ATP7A)
ENST00000686543.1:c.1798G>A (ATP7A)	ENSP00000509477.1:p.Ala600Thr
ENST00000686688.1:c.1798G>A (ATP7A)	ENSP00000509416.1:p.Ala600Thr
ENST00000686999.1:n.2109G>A (ATP7A)
ENST00000687086.1:c.1798G>A (ATP7A)	ENSP00000509566.1:p.Ala600Thr
ENST00000687628.1:n.1899G>A (ATP7A)
ENST00000688746.1:n.1950G>A (ATP7A)
ENST00000689530.1:c.1798G>A (ATP7A)	ENSP00000509707.1:p.Ala600Thr
ENST00000689541.1:n.2107G>A (ATP7A)
ENST00000689649.1:c.1798G>A (ATP7A)	ENSP00000509277.1:p.Ala600Thr
ENST00000689767.1:c.1891G>A (ATP7A)	ENSP00000509406.1:p.Ala631Thr
ENST00000689872.1:c.1798G>A (ATP7A)	ENSP00000509373.1:p.Ala600Thr
ENST00000692110.1:c.1714G>A (ATP7A)	ENSP00000509366.1:p.Ala572Thr
ENST00000692908.1:c.1798G>A (ATP7A)	ENSP00000508627.1:p.Ala600Thr
ENST00000693387.1:c.*1727G>A (ATP7A)	ENSP00000508732.1:n.*1727G>A
ENST00000693398.1:c.1798G>A (ATP7A)	ENSP00000510089.1:p.Ala600Thr
ENST00000341514.11:c.1798G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Ala600Thr
ENST00000644362.1:c.-20+98357G>A (PGK1)	ENSP00000496140.1:n.-20+98357G>A
ENST00000645094.1:c.*1712G>A (ATP7A)	ENSP00000493605.1:n.*1712G>A
ENST00000341514.10:c.1798G>A (ATP7A)	ENSP00000345728.6:p.Ala600Thr
ENST00000343533.9:c.1798G>A (ATP7A)	ENSP00000343026.5:p.Ala600Thr
ENST00000350425.5:c.*971G>A (ATP7A)	ENSP00000343678.5:n.*971G>A
NM_000052.6:c.1798G>A (ATP7A)	NP_000043.4:p.Ala600Thr
NM_001282224.1:c.1798G>A (ATP7A)	NP_001269153.1:p.Ala600Thr
NR_104109.1:n.322-22208G>A (ATP7A)
NM_000052.7:c.1798G>A (ATP7A) MANE Select	NP_000043.4:p.Ala600Thr
NR_104109.2:n.285-22208G>A (ATP7A)
NM_001282224.2:c.1798G>A (ATP7A)	NP_001269153.1:p.Ala600Thr