Canonical Allele Identifier: CA642477248

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs1557234431
• gnomAD v2: X-77266777-A-G
• gnomAD v4: X-78011280-A-G
• MyVariant Identifiers: chrX:g.77266777A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011280A>G , CM000685.2:g.78011280A>G	GRCh38
NC_000023.10:g.77266777A>G , CM000685.1:g.77266777A>G	GRCh37
NC_000023.9:g.77153433A>G	NCBI36
NG_013224.2:g.105584A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1976+28A>G (ATP7A)	ENSP00000343026.6:n.1976+28A>G
ENST00000682475.1:n.429A>G (ATP7A)
ENST00000685264.1:c.1946+28A>G (ATP7A)	ENSP00000510136.1:n.1946+28A>G
ENST00000686033.1:c.1946+28A>G (ATP7A)	ENSP00000510693.1:n.1946+28A>G
ENST00000686133.1:c.1946+28A>G (ATP7A)	ENSP00000509233.1:n.1946+28A>G
ENST00000686255.1:n.809A>G (ATP7A)
ENST00000686480.1:c.1946+28A>G (ATP7A)	ENSP00000508978.1:n.1946+28A>G
ENST00000686515.1:n.2086+28A>G (ATP7A)
ENST00000686543.1:c.1946+28A>G (ATP7A)	ENSP00000509477.1:n.1946+28A>G
ENST00000686688.1:c.1946+28A>G (ATP7A)	ENSP00000509416.1:n.1946+28A>G
ENST00000686999.1:n.2257+28A>G (ATP7A)
ENST00000687086.1:c.1946+28A>G (ATP7A)	ENSP00000509566.1:n.1946+28A>G
ENST00000687628.1:n.3987A>G (ATP7A)
ENST00000688746.1:n.2098+28A>G (ATP7A)
ENST00000689530.1:c.1946+28A>G (ATP7A)	ENSP00000509707.1:n.1946+28A>G
ENST00000689649.1:c.1946+28A>G (ATP7A)	ENSP00000509277.1:n.1946+28A>G
ENST00000689767.1:c.2039+28A>G (ATP7A)	ENSP00000509406.1:n.2039+28A>G
ENST00000689872.1:c.1870-169A>G (ATP7A)	ENSP00000509373.1:n.1870-169A>G
ENST00000692110.1:c.1862+28A>G (ATP7A)	ENSP00000509366.1:n.1862+28A>G
ENST00000692908.1:c.1946+28A>G (ATP7A)	ENSP00000508627.1:n.1946+28A>G
ENST00000693398.1:c.1946+28A>G (ATP7A)	ENSP00000510089.1:n.1946+28A>G
ENST00000341514.11:c.1946+28A>G (ATP7A) MANE Select	ENSP00000345728.6:n.1946+28A>G
ENST00000644362.1:c.-19-98587A>G (PGK1)	ENSP00000496140.1:n.-19-98587A>G
ENST00000645094.1:c.*1860+28A>G (ATP7A)	ENSP00000493605.1:n.*1860+28A>G
ENST00000341514.10:c.1946+28A>G (ATP7A)	ENSP00000345728.6:n.1946+28A>G
ENST00000343533.9:c.1946+28A>G (ATP7A)	ENSP00000343026.5:n.1946+28A>G
ENST00000350425.5:c.*1119+28A>G (ATP7A)	ENSP00000343678.5:n.*1119+28A>G
NM_000052.6:c.1946+28A>G (ATP7A)	NP_000043.4:n.1946+28A>G
NM_001282224.1:c.1946+28A>G (ATP7A)	NP_001269153.1:n.1946+28A>G
NR_104109.1:n.322-20120A>G (ATP7A)
NM_000052.7:c.1946+28A>G (ATP7A) MANE Select	NP_000043.4:n.1946+28A>G
NR_104109.2:n.285-20120A>G (ATP7A)
NM_001282224.2:c.1946+28A>G (ATP7A)	NP_001269153.1:n.1946+28A>G