Canonical Allele Identifier: CA413604113

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289224A>C (hg19) ; chrX:g.78033726A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033726A>C , CM000685.2:g.78033726A>C	GRCh38
NC_000023.10:g.77289224A>C , CM000685.1:g.77289224A>C	GRCh37
NC_000023.9:g.77175880A>C	NCBI36
NG_013224.2:g.128030A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3446A>C (ATP7A)	ENSP00000343026.6:p.Asp1149Ala
ENST00000682475.1:n.1833A>C (ATP7A)
ENST00000685033.1:c.680A>C (ATP7A)	ENSP00000509269.1:p.Asp227Ala
ENST00000685264.1:c.3416A>C (ATP7A)	ENSP00000510136.1:p.Asp1139Ala
ENST00000686033.1:c.3221A>C (ATP7A)	ENSP00000510693.1:p.Asp1074Ala
ENST00000686133.1:c.3416A>C (ATP7A)	ENSP00000509233.1:p.Asp1139Ala
ENST00000686255.1:n.2447A>C (ATP7A)
ENST00000686543.1:c.3182A>C (ATP7A)	ENSP00000509477.1:p.Asp1061Ala
ENST00000687086.1:c.3416A>C (ATP7A)	ENSP00000509566.1:p.Asp1139Ala
ENST00000689514.1:n.1458A>C (ATP7A)
ENST00000689767.1:c.3509A>C (ATP7A)	ENSP00000509406.1:p.Asp1170Ala
ENST00000692908.1:c.3182A>C (ATP7A)	ENSP00000508627.1:p.Asp1061Ala
ENST00000341514.11:c.3416A>C (ATP7A) MANE Select	ENSP00000345728.6:p.Asp1139Ala
ENST00000644362.1:c.-19-76141A>C (PGK1)	ENSP00000496140.1:n.-19-76141A>C
ENST00000645094.1:c.*3330A>C (ATP7A)	ENSP00000493605.1:n.*3330A>C
ENST00000341514.10:c.3416A>C (ATP7A)	ENSP00000345728.6:p.Asp1139Ala
ENST00000343533.9:c.3182A>C (ATP7A)	ENSP00000343026.5:p.Asp1061Ala
ENST00000350425.5:c.*2589A>C (ATP7A)	ENSP00000343678.5:n.*2589A>C
NM_000052.6:c.3416A>C (ATP7A)	NP_000043.4:p.Asp1139Ala
NM_001282224.1:c.3182A>C (ATP7A)	NP_001269153.1:p.Asp1061Ala
NR_104109.1:n.626A>C (ATP7A)
NM_000052.7:c.3416A>C (ATP7A) MANE Select	NP_000043.4:p.Asp1139Ala
NR_104109.2:n.589A>C (ATP7A)
NM_001282224.2:c.3182A>C (ATP7A)	NP_001269153.1:p.Asp1061Ala