Canonical Allele Identifier: CA413604232

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289275A>T (hg19) ; chrX:g.78033777A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033777A>T , CM000685.2:g.78033777A>T	GRCh38
NC_000023.10:g.77289275A>T , CM000685.1:g.77289275A>T	GRCh37
NC_000023.9:g.77175931A>T	NCBI36
NG_013224.2:g.128081A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3497A>T (ATP7A)	ENSP00000343026.6:p.Gln1166Leu
ENST00000682475.1:n.1884A>T (ATP7A)
ENST00000685033.1:c.731A>T (ATP7A)	ENSP00000509269.1:p.Gln244Leu
ENST00000685264.1:c.3467A>T (ATP7A)	ENSP00000510136.1:p.Gln1156Leu
ENST00000686033.1:c.3272A>T (ATP7A)	ENSP00000510693.1:p.Gln1091Leu
ENST00000686133.1:c.3467A>T (ATP7A)	ENSP00000509233.1:p.Gln1156Leu
ENST00000686255.1:n.2498A>T (ATP7A)
ENST00000686543.1:c.3233A>T (ATP7A)	ENSP00000509477.1:p.Gln1078Leu
ENST00000687086.1:c.3467A>T (ATP7A)	ENSP00000509566.1:p.Gln1156Leu
ENST00000689514.1:n.1509A>T (ATP7A)
ENST00000689767.1:c.3560A>T (ATP7A)	ENSP00000509406.1:p.Gln1187Leu
ENST00000692908.1:c.3233A>T (ATP7A)	ENSP00000508627.1:p.Gln1078Leu
ENST00000341514.11:c.3467A>T (ATP7A) MANE Select	ENSP00000345728.6:p.Gln1156Leu
ENST00000644362.1:c.-19-76090A>T (PGK1)	ENSP00000496140.1:n.-19-76090A>T
ENST00000645094.1:c.*3381A>T (ATP7A)	ENSP00000493605.1:n.*3381A>T
ENST00000341514.10:c.3467A>T (ATP7A)	ENSP00000345728.6:p.Gln1156Leu
ENST00000343533.9:c.3233A>T (ATP7A)	ENSP00000343026.5:p.Gln1078Leu
ENST00000350425.5:c.*2640A>T (ATP7A)	ENSP00000343678.5:n.*2640A>T
NM_000052.6:c.3467A>T (ATP7A)	NP_000043.4:p.Gln1156Leu
NM_001282224.1:c.3233A>T (ATP7A)	NP_001269153.1:p.Gln1078Leu
NR_104109.1:n.677A>T (ATP7A)
NM_000052.7:c.3467A>T (ATP7A) MANE Select	NP_000043.4:p.Gln1156Leu
NR_104109.2:n.640A>T (ATP7A)
NM_001282224.2:c.3233A>T (ATP7A)	NP_001269153.1:p.Gln1078Leu