Canonical Allele Identifier: CA413604110

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1361719
• ClinVar RCV Id: RCV001931926
• dbSNP Id: rs2149107203
• gnomAD v4: X-78033725-G-A
• MyVariant Identifiers: chrX:g.77289223G>A (hg19) ; chrX:g.78033725G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033725G>A , CM000685.2:g.78033725G>A	GRCh38
NC_000023.10:g.77289223G>A , CM000685.1:g.77289223G>A	GRCh37
NC_000023.9:g.77175879G>A	NCBI36
NG_013224.2:g.128029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3445G>A (ATP7A)	ENSP00000343026.6:p.Asp1149Asn
ENST00000682475.1:n.1832G>A (ATP7A)
ENST00000685033.1:c.679G>A (ATP7A)	ENSP00000509269.1:p.Asp227Asn
ENST00000685264.1:c.3415G>A (ATP7A)	ENSP00000510136.1:p.Asp1139Asn
ENST00000686033.1:c.3220G>A (ATP7A)	ENSP00000510693.1:p.Asp1074Asn
ENST00000686133.1:c.3415G>A (ATP7A)	ENSP00000509233.1:p.Asp1139Asn
ENST00000686255.1:n.2446G>A (ATP7A)
ENST00000686543.1:c.3181G>A (ATP7A)	ENSP00000509477.1:p.Asp1061Asn
ENST00000687086.1:c.3415G>A (ATP7A)	ENSP00000509566.1:p.Asp1139Asn
ENST00000689514.1:n.1457G>A (ATP7A)
ENST00000689767.1:c.3508G>A (ATP7A)	ENSP00000509406.1:p.Asp1170Asn
ENST00000692908.1:c.3181G>A (ATP7A)	ENSP00000508627.1:p.Asp1061Asn
ENST00000341514.11:c.3415G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Asp1139Asn
ENST00000644362.1:c.-19-76142G>A (PGK1)	ENSP00000496140.1:n.-19-76142G>A
ENST00000645094.1:c.*3329G>A (ATP7A)	ENSP00000493605.1:n.*3329G>A
ENST00000341514.10:c.3415G>A (ATP7A)	ENSP00000345728.6:p.Asp1139Asn
ENST00000343533.9:c.3181G>A (ATP7A)	ENSP00000343026.5:p.Asp1061Asn
ENST00000350425.5:c.*2588G>A (ATP7A)	ENSP00000343678.5:n.*2588G>A
NM_000052.6:c.3415G>A (ATP7A)	NP_000043.4:p.Asp1139Asn
NM_001282224.1:c.3181G>A (ATP7A)	NP_001269153.1:p.Asp1061Asn
NR_104109.1:n.625G>A (ATP7A)
NM_000052.7:c.3415G>A (ATP7A) MANE Select	NP_000043.4:p.Asp1139Asn
NR_104109.2:n.588G>A (ATP7A)
NM_001282224.2:c.3181G>A (ATP7A)	NP_001269153.1:p.Asp1061Asn