Canonical Allele Identifier: CA256067

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 11784
• ClinVar RCV Id: RCV000012551 ; RCV001851805
• dbSNP Id: rs72554649
• COSMIC: COSM5457638 ; COSM5457639
• MyVariant Identifiers: chrX:g.77284768C>T (hg19) ; chrX:g.78029271C>T (hg38)
• PubMed: PMID:9894833

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78029271C>T , CM000685.2:g.78029271C>T	GRCh38
NC_000023.10:g.77284768C>T , CM000685.1:g.77284768C>T	GRCh37
NC_000023.9:g.77171424C>T	NCBI36
NG_013224.2:g.123575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2968C>T (ATP7A)	ENSP00000343026.6:p.Arg990Ter
ENST00000682475.1:n.1355C>T (ATP7A)
ENST00000685033.1:c.376-2129C>T (ATP7A)	ENSP00000509269.1:n.376-2129C>T
ENST00000685264.1:c.2938C>T (ATP7A)	ENSP00000510136.1:p.Arg980Ter
ENST00000686033.1:c.2917-2129C>T (ATP7A)	ENSP00000510693.1:n.2917-2129C>T
ENST00000686133.1:c.2938C>T (ATP7A)	ENSP00000509233.1:p.Arg980Ter
ENST00000686255.1:n.1969C>T (ATP7A)
ENST00000686543.1:c.2704C>T (ATP7A)	ENSP00000509477.1:p.Arg902Ter
ENST00000687086.1:c.2938C>T (ATP7A)	ENSP00000509566.1:p.Arg980Ter
ENST00000689514.1:n.980C>T (ATP7A)
ENST00000689767.1:c.3031C>T (ATP7A)	ENSP00000509406.1:p.Arg1011Ter
ENST00000692908.1:c.2704C>T (ATP7A)	ENSP00000508627.1:p.Arg902Ter
ENST00000341514.11:c.2938C>T (ATP7A) MANE Select	ENSP00000345728.6:p.Arg980Ter
ENST00000644362.1:c.-19-80596C>T (PGK1)	ENSP00000496140.1:n.-19-80596C>T
ENST00000645094.1:c.*2852C>T (ATP7A)	ENSP00000493605.1:n.*2852C>T
ENST00000341514.10:c.2938C>T (ATP7A)	ENSP00000345728.6:p.Arg980Ter
ENST00000343533.9:c.2704C>T (ATP7A)	ENSP00000343026.5:p.Arg902Ter
ENST00000350425.5:c.*2111C>T (ATP7A)	ENSP00000343678.5:n.*2111C>T
NM_000052.6:c.2938C>T (ATP7A)	NP_000043.4:p.Arg980Ter
NM_001282224.1:c.2704C>T (ATP7A)	NP_001269153.1:p.Arg902Ter
NR_104109.1:n.322-2129C>T (ATP7A)
NM_000052.7:c.2938C>T (ATP7A) MANE Select	NP_000043.4:p.Arg980Ter
NR_104109.2:n.285-2129C>T (ATP7A)
NM_001282224.2:c.2704C>T (ATP7A)	NP_001269153.1:p.Arg902Ter