Canonical Allele Identifier: CA413606165

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78046386T>C , CM000685.2:g.78046386T>C	GRCh38
NC_000023.10:g.77301883T>C , CM000685.1:g.77301883T>C	GRCh37
NC_000023.9:g.77188539T>C	NCBI36
NG_013224.2:g.140690T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.4319T>C (ATP7A) MANE Select	NP_000043.4:p.Ile1440Thr
ENST00000341514.11:c.4319T>C (ATP7A) MANE Select	ENSP00000345728.6:p.Ile1440Thr
NM_000052.6:c.4319T>C (ATP7A)	NP_000043.4:p.Ile1440Thr
NM_001282224.1:c.4085T>C (ATP7A)	NP_001269153.1:p.Ile1362Thr
NM_001282224.2:c.4085T>C (ATP7A)	NP_001269153.1:p.Ile1362Thr
NR_104109.1:n.1529T>C (ATP7A)
NR_104109.2:n.1492T>C (ATP7A)
ENST00000341514.10:c.4319T>C (ATP7A)	ENSP00000345728.6:p.Ile1440Thr
ENST00000343533.10:c.4349T>C (ATP7A)	ENSP00000343026.6:p.Ile1450Thr
ENST00000343533.9:c.4085T>C (ATP7A)	ENSP00000343026.5:p.Ile1362Thr
ENST00000350425.5:c.*3492T>C (ATP7A)	ENSP00000343678.5:n.*3492T>C
ENST00000644362.1:c.-19-63481T>C (PGK1)	ENSP00000496140.1:n.-19-63481T>C
ENST00000682475.1:n.2736T>C (ATP7A)
ENST00000685033.1:c.1583T>C (ATP7A)	ENSP00000509269.1:p.Ile528Thr
ENST00000685264.1:c.4319T>C (ATP7A)	ENSP00000510136.1:p.Ile1440Thr
ENST00000686033.1:c.4124T>C (ATP7A)	ENSP00000510693.1:p.Ile1375Thr
ENST00000686133.1:c.4319T>C (ATP7A)	ENSP00000509233.1:p.Ile1440Thr
ENST00000686255.1:n.3350T>C (ATP7A)
ENST00000686543.1:c.4085T>C (ATP7A)	ENSP00000509477.1:p.Ile1362Thr
ENST00000687086.1:c.4319T>C (ATP7A)	ENSP00000509566.1:p.Ile1440Thr
ENST00000689083.1:n.1614T>C (ATP7A)
ENST00000689767.1:c.4412T>C (ATP7A)	ENSP00000509406.1:p.Ile1471Thr
ENST00000692908.1:c.4085T>C (ATP7A)	ENSP00000508627.1:p.Ile1362Thr