Canonical Allele Identifier: CA10459479

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78042678G>T , CM000685.2:g.78042678G>T	GRCh38
NC_000023.10:g.77298176G>T , CM000685.1:g.77298176G>T	GRCh37
NC_000023.9:g.77184832G>T	NCBI36
NG_013224.2:g.136982G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.3895G>T (ATP7A) MANE Select	NP_000043.4:p.Val1299Leu
ENST00000341514.11:c.3895G>T (ATP7A) MANE Select	ENSP00000345728.6:p.Val1299Leu
NM_000052.6:c.3895G>T (ATP7A)	NP_000043.4:p.Val1299Leu
NM_001282224.1:c.3661G>T (ATP7A)	NP_001269153.1:p.Val1221Leu
NM_001282224.2:c.3661G>T (ATP7A)	NP_001269153.1:p.Val1221Leu
NR_104109.1:n.1105G>T (ATP7A)
NR_104109.2:n.1068G>T (ATP7A)
ENST00000341514.10:c.3895G>T (ATP7A)	ENSP00000345728.6:p.Val1299Leu
ENST00000343533.10:c.3925G>T (ATP7A)	ENSP00000343026.6:p.Val1309Leu
ENST00000343533.9:c.3661G>T (ATP7A)	ENSP00000343026.5:p.Val1221Leu
ENST00000350425.5:c.*3068G>T (ATP7A)	ENSP00000343678.5:n.*3068G>T
ENST00000644362.1:c.-19-67189G>T (PGK1)	ENSP00000496140.1:n.-19-67189G>T
ENST00000682475.1:n.2312G>T (ATP7A)
ENST00000685033.1:c.1159G>T (ATP7A)	ENSP00000509269.1:p.Val387Leu
ENST00000685264.1:c.3895G>T (ATP7A)	ENSP00000510136.1:p.Val1299Leu
ENST00000686033.1:c.3700G>T (ATP7A)	ENSP00000510693.1:p.Val1234Leu
ENST00000686133.1:c.3895G>T (ATP7A)	ENSP00000509233.1:p.Val1299Leu
ENST00000686255.1:n.2926G>T (ATP7A)
ENST00000686543.1:c.3661G>T (ATP7A)	ENSP00000509477.1:p.Val1221Leu
ENST00000687086.1:c.3895G>T (ATP7A)	ENSP00000509566.1:p.Val1299Leu
ENST00000689514.1:n.1937G>T (ATP7A)
ENST00000689767.1:c.3988G>T (ATP7A)	ENSP00000509406.1:p.Val1330Leu
ENST00000692908.1:c.3661G>T (ATP7A)	ENSP00000508627.1:p.Val1221Leu