Canonical Allele Identifier: CA413602767

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77276478T>C (hg19) ; chrX:g.78020981T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78020981T>C , CM000685.2:g.78020981T>C	GRCh38
NC_000023.10:g.77276478T>C , CM000685.1:g.77276478T>C	GRCh37
NC_000023.9:g.77163134T>C	NCBI36
NG_013224.2:g.115285T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.2848T>C (ATP7A)	ENSP00000343026.6:p.Tyr950His
ENST00000682475.1:n.1235T>C (ATP7A)
ENST00000685033.1:c.375+583T>C (ATP7A)	ENSP00000509269.1:n.375+583T>C
ENST00000685264.1:c.2818T>C (ATP7A)	ENSP00000510136.1:p.Tyr940His
ENST00000686033.1:c.2818T>C (ATP7A)	ENSP00000510693.1:p.Tyr940His
ENST00000686133.1:c.2818T>C (ATP7A)	ENSP00000509233.1:p.Tyr940His
ENST00000686255.1:n.1849T>C (ATP7A)
ENST00000686543.1:c.2584T>C (ATP7A)	ENSP00000509477.1:p.Tyr862His
ENST00000687086.1:c.2818T>C (ATP7A)	ENSP00000509566.1:p.Tyr940His
ENST00000689514.1:n.860T>C (ATP7A)
ENST00000689530.1:c.2818T>C (ATP7A)	ENSP00000509707.1:p.Tyr940His
ENST00000689767.1:c.2911T>C (ATP7A)	ENSP00000509406.1:p.Tyr971His
ENST00000692908.1:c.2584T>C (ATP7A)	ENSP00000508627.1:p.Tyr862His
ENST00000341514.11:c.2818T>C (ATP7A) MANE Select	ENSP00000345728.6:p.Tyr940His
ENST00000644362.1:c.-19-88886T>C (PGK1)	ENSP00000496140.1:n.-19-88886T>C
ENST00000645094.1:c.*2732T>C (ATP7A)	ENSP00000493605.1:n.*2732T>C
ENST00000341514.10:c.2818T>C (ATP7A)	ENSP00000345728.6:p.Tyr940His
ENST00000343533.9:c.2584T>C (ATP7A)	ENSP00000343026.5:p.Tyr862His
ENST00000350425.5:c.*1991T>C (ATP7A)	ENSP00000343678.5:n.*1991T>C
NM_000052.6:c.2818T>C (ATP7A)	NP_000043.4:p.Tyr940His
NM_001282224.1:c.2584T>C (ATP7A)	NP_001269153.1:p.Tyr862His
NR_104109.1:n.322-10419T>C (ATP7A)
NM_000052.7:c.2818T>C (ATP7A) MANE Select	NP_000043.4:p.Tyr940His
NR_104109.2:n.285-10419T>C (ATP7A)
NM_001282224.2:c.2584T>C (ATP7A)	NP_001269153.1:p.Tyr862His