Canonical Allele Identifier: CA413605455

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 465121
• ClinVar RCV Id: RCV000538247
• dbSNP Id: rs1557238665
• MyVariant Identifiers: chrX:g.77298814G>A (hg19) ; chrX:g.78043316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78043316G>A , CM000685.2:g.78043316G>A	GRCh38
NC_000023.10:g.77298814G>A , CM000685.1:g.77298814G>A	GRCh37
NC_000023.9:g.77185470G>A	NCBI36
NG_013224.2:g.137620G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.4036-1G>A (ATP7A)	ENSP00000343026.6:n.4036-1G>A
ENST00000682475.1:n.2423-1G>A (ATP7A)
ENST00000685033.1:c.1270-1G>A (ATP7A)	ENSP00000509269.1:n.1270-1G>A
ENST00000685264.1:c.4006-1G>A (ATP7A)	ENSP00000510136.1:n.4006-1G>A
ENST00000686033.1:c.3811-1G>A (ATP7A)	ENSP00000510693.1:n.3811-1G>A
ENST00000686133.1:c.4006-1G>A (ATP7A)	ENSP00000509233.1:n.4006-1G>A
ENST00000686255.1:n.3037-1G>A (ATP7A)
ENST00000686543.1:c.3772-1G>A (ATP7A)	ENSP00000509477.1:n.3772-1G>A
ENST00000687086.1:c.4006-1G>A (ATP7A)	ENSP00000509566.1:n.4006-1G>A
ENST00000689514.1:n.2048-1G>A (ATP7A)
ENST00000689767.1:c.4099-1G>A (ATP7A)	ENSP00000509406.1:n.4099-1G>A
ENST00000692908.1:c.3772-1G>A (ATP7A)	ENSP00000508627.1:n.3772-1G>A
ENST00000341514.11:c.4006-1G>A (ATP7A) MANE Select	ENSP00000345728.6:n.4006-1G>A
ENST00000644362.1:c.-19-66551G>A (PGK1)	ENSP00000496140.1:n.-19-66551G>A
ENST00000341514.10:c.4006-1G>A (ATP7A)	ENSP00000345728.6:n.4006-1G>A
ENST00000343533.9:c.3772-1G>A (ATP7A)	ENSP00000343026.5:n.3772-1G>A
ENST00000350425.5:c.*3179-1G>A (ATP7A)	ENSP00000343678.5:n.*3179-1G>A
NM_000052.6:c.4006-1G>A (ATP7A)	NP_000043.4:n.4006-1G>A
NM_001282224.1:c.3772-1G>A (ATP7A)	NP_001269153.1:n.3772-1G>A
NR_104109.1:n.1216-1G>A (ATP7A)
NM_000052.7:c.4006-1G>A (ATP7A) MANE Select	NP_000043.4:n.4006-1G>A
NR_104109.2:n.1179-1G>A (ATP7A)
NM_001282224.2:c.3772-1G>A (ATP7A)	NP_001269153.1:n.3772-1G>A