Canonical Allele Identifier: CA331110109

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78045526G>T , CM000685.2:g.78045526G>T	GRCh38
NC_000023.10:g.77301023G>T , CM000685.1:g.77301023G>T	GRCh37
NC_000023.9:g.77187679G>T	NCBI36
NG_013224.2:g.139830G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.4180G>T (ATP7A) MANE Select	NP_000043.4:p.Ala1394Ser
ENST00000341514.11:c.4180G>T (ATP7A) MANE Select	ENSP00000345728.6:p.Ala1394Ser
NM_000052.6:c.4180G>T (ATP7A)	NP_000043.4:p.Ala1394Ser
NM_001282224.1:c.3946G>T (ATP7A)	NP_001269153.1:p.Ala1316Ser
NM_001282224.2:c.3946G>T (ATP7A)	NP_001269153.1:p.Ala1316Ser
NR_104109.1:n.1390G>T (ATP7A)
NR_104109.2:n.1353G>T (ATP7A)
ENST00000341514.10:c.4180G>T (ATP7A)	ENSP00000345728.6:p.Ala1394Ser
ENST00000343533.10:c.4210G>T (ATP7A)	ENSP00000343026.6:p.Ala1404Ser
ENST00000343533.9:c.3946G>T (ATP7A)	ENSP00000343026.5:p.Ala1316Ser
ENST00000350425.5:c.*3353G>T (ATP7A)	ENSP00000343678.5:n.*3353G>T
ENST00000644362.1:c.-19-64341G>T (PGK1)	ENSP00000496140.1:n.-19-64341G>T
ENST00000682475.1:n.2597G>T (ATP7A)
ENST00000685033.1:c.1444G>T (ATP7A)	ENSP00000509269.1:p.Ala482Ser
ENST00000685264.1:c.4180G>T (ATP7A)	ENSP00000510136.1:p.Ala1394Ser
ENST00000686033.1:c.3985G>T (ATP7A)	ENSP00000510693.1:p.Ala1329Ser
ENST00000686133.1:c.4180G>T (ATP7A)	ENSP00000509233.1:p.Ala1394Ser
ENST00000686255.1:n.3211G>T (ATP7A)
ENST00000686543.1:c.3946G>T (ATP7A)	ENSP00000509477.1:p.Ala1316Ser
ENST00000687086.1:c.4180G>T (ATP7A)	ENSP00000509566.1:p.Ala1394Ser
ENST00000689083.1:n.1475G>T (ATP7A)
ENST00000689767.1:c.4273G>T (ATP7A)	ENSP00000509406.1:p.Ala1425Ser
ENST00000692908.1:c.3946G>T (ATP7A)	ENSP00000508627.1:p.Ala1316Ser