Canonical Allele Identifier: CA413606185

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78046394A>G , CM000685.2:g.78046394A>G	GRCh38
NC_000023.10:g.77301891A>G , CM000685.1:g.77301891A>G	GRCh37
NC_000023.9:g.77188547A>G	NCBI36
NG_013224.2:g.140698A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.4327A>G (ATP7A) MANE Select	NP_000043.4:p.Thr1443Ala
ENST00000341514.11:c.4327A>G (ATP7A) MANE Select	ENSP00000345728.6:p.Thr1443Ala
NM_000052.6:c.4327A>G (ATP7A)	NP_000043.4:p.Thr1443Ala
NM_001282224.1:c.4093A>G (ATP7A)	NP_001269153.1:p.Thr1365Ala
NM_001282224.2:c.4093A>G (ATP7A)	NP_001269153.1:p.Thr1365Ala
NR_104109.1:n.1537A>G (ATP7A)
NR_104109.2:n.1500A>G (ATP7A)
ENST00000341514.10:c.4327A>G (ATP7A)	ENSP00000345728.6:p.Thr1443Ala
ENST00000343533.10:c.4357A>G (ATP7A)	ENSP00000343026.6:p.Thr1453Ala
ENST00000343533.9:c.4093A>G (ATP7A)	ENSP00000343026.5:p.Thr1365Ala
ENST00000350425.5:c.*3500A>G (ATP7A)	ENSP00000343678.5:n.*3500A>G
ENST00000644362.1:c.-19-63473A>G (PGK1)	ENSP00000496140.1:n.-19-63473A>G
ENST00000682475.1:n.2744A>G (ATP7A)
ENST00000685033.1:c.1591A>G (ATP7A)	ENSP00000509269.1:p.Thr531Ala
ENST00000685264.1:c.4327A>G (ATP7A)	ENSP00000510136.1:p.Thr1443Ala
ENST00000686033.1:c.4132A>G (ATP7A)	ENSP00000510693.1:p.Thr1378Ala
ENST00000686133.1:c.4327A>G (ATP7A)	ENSP00000509233.1:p.Thr1443Ala
ENST00000686255.1:n.3358A>G (ATP7A)
ENST00000686543.1:c.4093A>G (ATP7A)	ENSP00000509477.1:p.Thr1365Ala
ENST00000687086.1:c.4327A>G (ATP7A)	ENSP00000509566.1:p.Thr1443Ala
ENST00000689083.1:n.1622A>G (ATP7A)
ENST00000689767.1:c.4420A>G (ATP7A)	ENSP00000509406.1:p.Thr1474Ala
ENST00000692908.1:c.4093A>G (ATP7A)	ENSP00000508627.1:p.Thr1365Ala