Canonical Allele Identifier: CA517073408

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289129C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033631C>G , CM000685.2:g.78033631C>G	GRCh38
NC_000023.10:g.77289129C>G , CM000685.1:g.77289129C>G	GRCh37
NC_000023.9:g.77175785C>G	NCBI36
NG_013224.2:g.127935C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3351C>G (ATP7A)	ENSP00000343026.6:p.Thr1117=
ENST00000682475.1:n.1738C>G (ATP7A)
ENST00000685033.1:c.585C>G (ATP7A)	ENSP00000509269.1:p.Thr195=
ENST00000685264.1:c.3321C>G (ATP7A)	ENSP00000510136.1:p.Thr1107=
ENST00000686033.1:c.3126C>G (ATP7A)	ENSP00000510693.1:p.Thr1042=
ENST00000686133.1:c.3321C>G (ATP7A)	ENSP00000509233.1:p.Thr1107=
ENST00000686255.1:n.2352C>G (ATP7A)
ENST00000686543.1:c.3087C>G (ATP7A)	ENSP00000509477.1:p.Thr1029=
ENST00000687086.1:c.3321C>G (ATP7A)	ENSP00000509566.1:p.Thr1107=
ENST00000689514.1:n.1363C>G (ATP7A)
ENST00000689767.1:c.3414C>G (ATP7A)	ENSP00000509406.1:p.Thr1138=
ENST00000692908.1:c.3087C>G (ATP7A)	ENSP00000508627.1:p.Thr1029=
ENST00000341514.11:c.3321C>G (ATP7A) MANE Select	ENSP00000345728.6:p.Thr1107=
ENST00000644362.1:c.-19-76236C>G (PGK1)	ENSP00000496140.1:n.-19-76236C>G
ENST00000645094.1:c.*3235C>G (ATP7A)	ENSP00000493605.1:n.*3235C>G
ENST00000341514.10:c.3321C>G (ATP7A)	ENSP00000345728.6:p.Thr1107=
ENST00000343533.9:c.3087C>G (ATP7A)	ENSP00000343026.5:p.Thr1029=
ENST00000350425.5:c.*2494C>G (ATP7A)	ENSP00000343678.5:n.*2494C>G
NM_000052.6:c.3321C>G (ATP7A)	NP_000043.4:p.Thr1107=
NM_001282224.1:c.3087C>G (ATP7A)	NP_001269153.1:p.Thr1029=
NR_104109.1:n.531C>G (ATP7A)
NM_000052.7:c.3321C>G (ATP7A) MANE Select	NP_000043.4:p.Thr1107=
NR_104109.2:n.494C>G (ATP7A)
NM_001282224.2:c.3087C>G (ATP7A)	NP_001269153.1:p.Thr1029=