Canonical Allele Identifier: CA413603416

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 459839
• ClinVar RCV Id: RCV000552537
• dbSNP Id: rs1557236762
• MyVariant Identifiers: chrX:g.77284942G>A (hg19) ; chrX:g.78029445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78029445G>A , CM000685.2:g.78029445G>A	GRCh38
NC_000023.10:g.77284942G>A , CM000685.1:g.77284942G>A	GRCh37
NC_000023.9:g.77171598G>A	NCBI36
NG_013224.2:g.123749G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3141+1G>A (ATP7A)	ENSP00000343026.6:n.3141+1G>A
ENST00000682475.1:n.1528+1G>A (ATP7A)
ENST00000685033.1:c.376-1955G>A (ATP7A)	ENSP00000509269.1:n.376-1955G>A
ENST00000685264.1:c.3111+1G>A (ATP7A)	ENSP00000510136.1:n.3111+1G>A
ENST00000686033.1:c.2917-1955G>A (ATP7A)	ENSP00000510693.1:n.2917-1955G>A
ENST00000686133.1:c.3111+1G>A (ATP7A)	ENSP00000509233.1:n.3111+1G>A
ENST00000686255.1:n.2142+1G>A (ATP7A)
ENST00000686543.1:c.2877+1G>A (ATP7A)	ENSP00000509477.1:n.2877+1G>A
ENST00000687086.1:c.3111+1G>A (ATP7A)	ENSP00000509566.1:n.3111+1G>A
ENST00000689514.1:n.1153+1G>A (ATP7A)
ENST00000689767.1:c.3204+1G>A (ATP7A)	ENSP00000509406.1:n.3204+1G>A
ENST00000692908.1:c.2877+1G>A (ATP7A)	ENSP00000508627.1:n.2877+1G>A
ENST00000341514.11:c.3111+1G>A (ATP7A) MANE Select	ENSP00000345728.6:n.3111+1G>A
ENST00000644362.1:c.-19-80422G>A (PGK1)	ENSP00000496140.1:n.-19-80422G>A
ENST00000645094.1:c.*3025+1G>A (ATP7A)	ENSP00000493605.1:n.*3025+1G>A
ENST00000341514.10:c.3111+1G>A (ATP7A)	ENSP00000345728.6:n.3111+1G>A
ENST00000343533.9:c.2877+1G>A (ATP7A)	ENSP00000343026.5:n.2877+1G>A
ENST00000350425.5:c.*2284+1G>A (ATP7A)	ENSP00000343678.5:n.*2284+1G>A
NM_000052.6:c.3111+1G>A (ATP7A)	NP_000043.4:n.3111+1G>A
NM_001282224.1:c.2877+1G>A (ATP7A)	NP_001269153.1:n.2877+1G>A
NR_104109.1:n.322-1955G>A (ATP7A)
NM_000052.7:c.3111+1G>A (ATP7A) MANE Select	NP_000043.4:n.3111+1G>A
NR_104109.2:n.285-1955G>A (ATP7A)
NM_001282224.2:c.2877+1G>A (ATP7A)	NP_001269153.1:n.2877+1G>A