Canonical Allele Identifier: CA517074472

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs1366401876
• gnomAD v2: X-77289312-G-A
• gnomAD v3: X-78033814-G-A
• gnomAD v4: X-78033814-G-A
• MyVariant Identifiers: chrX:g.77289312G>A (hg19) ; chrX:g.78033814G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033814G>A , CM000685.2:g.78033814G>A	GRCh38
NC_000023.10:g.77289312G>A , CM000685.1:g.77289312G>A	GRCh37
NC_000023.9:g.77175968G>A	NCBI36
NG_013224.2:g.128118G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.3534G>A (ATP7A)	ENSP00000343026.6:p.Gln1178=
ENST00000682475.1:n.1921G>A (ATP7A)
ENST00000685033.1:c.768G>A (ATP7A)	ENSP00000509269.1:p.Gln256=
ENST00000685264.1:c.3504G>A (ATP7A)	ENSP00000510136.1:p.Gln1168=
ENST00000686033.1:c.3309G>A (ATP7A)	ENSP00000510693.1:p.Gln1103=
ENST00000686133.1:c.3504G>A (ATP7A)	ENSP00000509233.1:p.Gln1168=
ENST00000686255.1:n.2535G>A (ATP7A)
ENST00000686543.1:c.3270G>A (ATP7A)	ENSP00000509477.1:p.Gln1090=
ENST00000687086.1:c.3504G>A (ATP7A)	ENSP00000509566.1:p.Gln1168=
ENST00000689514.1:n.1546G>A (ATP7A)
ENST00000689767.1:c.3597G>A (ATP7A)	ENSP00000509406.1:p.Gln1199=
ENST00000692908.1:c.3270G>A (ATP7A)	ENSP00000508627.1:p.Gln1090=
ENST00000341514.11:c.3504G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Gln1168=
ENST00000644362.1:c.-19-76053G>A (PGK1)	ENSP00000496140.1:n.-19-76053G>A
ENST00000645094.1:c.*3418G>A (ATP7A)	ENSP00000493605.1:n.*3418G>A
ENST00000341514.10:c.3504G>A (ATP7A)	ENSP00000345728.6:p.Gln1168=
ENST00000343533.9:c.3270G>A (ATP7A)	ENSP00000343026.5:p.Gln1090=
ENST00000350425.5:c.*2677G>A (ATP7A)	ENSP00000343678.5:n.*2677G>A
NM_000052.6:c.3504G>A (ATP7A)	NP_000043.4:p.Gln1168=
NM_001282224.1:c.3270G>A (ATP7A)	NP_001269153.1:p.Gln1090=
NR_104109.1:n.714G>A (ATP7A)
NM_000052.7:c.3504G>A (ATP7A) MANE Select	NP_000043.4:p.Gln1168=
NR_104109.2:n.677G>A (ATP7A)
NM_001282224.2:c.3270G>A (ATP7A)	NP_001269153.1:p.Gln1090=