Canonical Allele Identifier: CA913203523

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1617175
• ClinVar RCV Id: RCV002076413 ; RCV002471255
• dbSNP Id: rs2149107265

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033829A>C , CM000685.2:g.78033829A>C	GRCh38
NC_000023.10:g.77289327A>C , CM000685.1:g.77289327A>C	GRCh37
NC_000023.9:g.77175983A>C	NCBI36
NG_013224.2:g.128133A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3541+8A>C (ATP7A)	ENSP00000343026.6:n.3541+8A>C
ENST00000682475.1:n.1928+8A>C (ATP7A)
ENST00000685033.1:c.775+8A>C (ATP7A)	ENSP00000509269.1:n.775+8A>C
ENST00000685264.1:c.3511+8A>C (ATP7A)	ENSP00000510136.1:n.3511+8A>C
ENST00000686033.1:c.3316+8A>C (ATP7A)	ENSP00000510693.1:n.3316+8A>C
ENST00000686133.1:c.3511+8A>C (ATP7A)	ENSP00000509233.1:n.3511+8A>C
ENST00000686255.1:n.2542+8A>C (ATP7A)
ENST00000686543.1:c.3277+8A>C (ATP7A)	ENSP00000509477.1:n.3277+8A>C
ENST00000687086.1:c.3511+8A>C (ATP7A)	ENSP00000509566.1:n.3511+8A>C
ENST00000689514.1:n.1553+8A>C (ATP7A)
ENST00000689767.1:c.3604+8A>C (ATP7A)	ENSP00000509406.1:n.3604+8A>C
ENST00000692908.1:c.3277+8A>C (ATP7A)	ENSP00000508627.1:n.3277+8A>C
ENST00000341514.11:c.3511+8A>C (ATP7A) MANE Select	ENSP00000345728.6:n.3511+8A>C
ENST00000644362.1:c.-19-76038A>C (PGK1)	ENSP00000496140.1:n.-19-76038A>C
ENST00000645094.1:c.*3425+8A>C (ATP7A)	ENSP00000493605.1:n.*3425+8A>C
ENST00000341514.10:c.3511+8A>C (ATP7A)	ENSP00000345728.6:n.3511+8A>C
ENST00000343533.9:c.3277+8A>C (ATP7A)	ENSP00000343026.5:n.3277+8A>C
ENST00000350425.5:c.*2684+8A>C (ATP7A)	ENSP00000343678.5:n.*2684+8A>C
NM_000052.6:c.3511+8A>C (ATP7A)	NP_000043.4:n.3511+8A>C
NM_001282224.1:c.3277+8A>C (ATP7A)	NP_001269153.1:n.3277+8A>C
NR_104109.1:n.721+8A>C (ATP7A)
NM_000052.7:c.3511+8A>C (ATP7A) MANE Select	NP_000043.4:n.3511+8A>C
NR_104109.2:n.684+8A>C (ATP7A)
NM_001282224.2:c.3277+8A>C (ATP7A)	NP_001269153.1:n.3277+8A>C