Canonical Allele Identifier: CA413605152

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78042651C>T , CM000685.2:g.78042651C>T	GRCh38
NC_000023.10:g.77298149C>T , CM000685.1:g.77298149C>T	GRCh37
NC_000023.9:g.77184805C>T	NCBI36
NG_013224.2:g.136955C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.3868C>T (ATP7A) MANE Select	NP_000043.4:p.Gln1290Ter
ENST00000341514.11:c.3868C>T (ATP7A) MANE Select	ENSP00000345728.6:p.Gln1290Ter
NM_000052.6:c.3868C>T (ATP7A)	NP_000043.4:p.Gln1290Ter
NM_001282224.1:c.3634C>T (ATP7A)	NP_001269153.1:p.Gln1212Ter
NM_001282224.2:c.3634C>T (ATP7A)	NP_001269153.1:p.Gln1212Ter
NR_104109.1:n.1078C>T (ATP7A)
NR_104109.2:n.1041C>T (ATP7A)
ENST00000341514.10:c.3868C>T (ATP7A)	ENSP00000345728.6:p.Gln1290Ter
ENST00000343533.10:c.3898C>T (ATP7A)	ENSP00000343026.6:p.Gln1300Ter
ENST00000343533.9:c.3634C>T (ATP7A)	ENSP00000343026.5:p.Gln1212Ter
ENST00000350425.5:c.*3041C>T (ATP7A)	ENSP00000343678.5:n.*3041C>T
ENST00000644362.1:c.-19-67216C>T (PGK1)	ENSP00000496140.1:n.-19-67216C>T
ENST00000682475.1:n.2285C>T (ATP7A)
ENST00000685033.1:c.1132C>T (ATP7A)	ENSP00000509269.1:p.Gln378Ter
ENST00000685264.1:c.3868C>T (ATP7A)	ENSP00000510136.1:p.Gln1290Ter
ENST00000686033.1:c.3673C>T (ATP7A)	ENSP00000510693.1:p.Gln1225Ter
ENST00000686133.1:c.3868C>T (ATP7A)	ENSP00000509233.1:p.Gln1290Ter
ENST00000686255.1:n.2899C>T (ATP7A)
ENST00000686543.1:c.3634C>T (ATP7A)	ENSP00000509477.1:p.Gln1212Ter
ENST00000687086.1:c.3868C>T (ATP7A)	ENSP00000509566.1:p.Gln1290Ter
ENST00000689514.1:n.1910C>T (ATP7A)
ENST00000689767.1:c.3961C>T (ATP7A)	ENSP00000509406.1:p.Gln1321Ter
ENST00000692908.1:c.3634C>T (ATP7A)	ENSP00000508627.1:p.Gln1212Ter