Canonical Allele Identifier: CA413604314

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289314T>A (hg19) ; chrX:g.78033816T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033816T>A , CM000685.2:g.78033816T>A	GRCh38
NC_000023.10:g.77289314T>A , CM000685.1:g.77289314T>A	GRCh37
NC_000023.9:g.77175970T>A	NCBI36
NG_013224.2:g.128120T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3536T>A (ATP7A)	ENSP00000343026.6:p.Ile1179Asn
ENST00000682475.1:n.1923T>A (ATP7A)
ENST00000685033.1:c.770T>A (ATP7A)	ENSP00000509269.1:p.Ile257Asn
ENST00000685264.1:c.3506T>A (ATP7A)	ENSP00000510136.1:p.Ile1169Asn
ENST00000686033.1:c.3311T>A (ATP7A)	ENSP00000510693.1:p.Ile1104Asn
ENST00000686133.1:c.3506T>A (ATP7A)	ENSP00000509233.1:p.Ile1169Asn
ENST00000686255.1:n.2537T>A (ATP7A)
ENST00000686543.1:c.3272T>A (ATP7A)	ENSP00000509477.1:p.Ile1091Asn
ENST00000687086.1:c.3506T>A (ATP7A)	ENSP00000509566.1:p.Ile1169Asn
ENST00000689514.1:n.1548T>A (ATP7A)
ENST00000689767.1:c.3599T>A (ATP7A)	ENSP00000509406.1:p.Ile1200Asn
ENST00000692908.1:c.3272T>A (ATP7A)	ENSP00000508627.1:p.Ile1091Asn
ENST00000341514.11:c.3506T>A (ATP7A) MANE Select	ENSP00000345728.6:p.Ile1169Asn
ENST00000644362.1:c.-19-76051T>A (PGK1)	ENSP00000496140.1:n.-19-76051T>A
ENST00000645094.1:c.*3420T>A (ATP7A)	ENSP00000493605.1:n.*3420T>A
ENST00000341514.10:c.3506T>A (ATP7A)	ENSP00000345728.6:p.Ile1169Asn
ENST00000343533.9:c.3272T>A (ATP7A)	ENSP00000343026.5:p.Ile1091Asn
ENST00000350425.5:c.*2679T>A (ATP7A)	ENSP00000343678.5:n.*2679T>A
NM_000052.6:c.3506T>A (ATP7A)	NP_000043.4:p.Ile1169Asn
NM_001282224.1:c.3272T>A (ATP7A)	NP_001269153.1:p.Ile1091Asn
NR_104109.1:n.716T>A (ATP7A)
NM_000052.7:c.3506T>A (ATP7A) MANE Select	NP_000043.4:p.Ile1169Asn
NR_104109.2:n.679T>A (ATP7A)
NM_001282224.2:c.3272T>A (ATP7A)	NP_001269153.1:p.Ile1091Asn