Canonical Allele Identifier: CA413605802

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77301000C>T (hg19) ; chrX:g.78045503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78045503C>T , CM000685.2:g.78045503C>T	GRCh38
NC_000023.10:g.77301000C>T , CM000685.1:g.77301000C>T	GRCh37
NC_000023.9:g.77187656C>T	NCBI36
NG_013224.2:g.139807C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.4187C>T (ATP7A)	ENSP00000343026.6:p.Pro1396Leu
ENST00000682475.1:n.2574C>T (ATP7A)
ENST00000685033.1:c.1421C>T (ATP7A)	ENSP00000509269.1:p.Pro474Leu
ENST00000685264.1:c.4157C>T (ATP7A)	ENSP00000510136.1:p.Pro1386Leu
ENST00000686033.1:c.3962C>T (ATP7A)	ENSP00000510693.1:p.Pro1321Leu
ENST00000686133.1:c.4157C>T (ATP7A)	ENSP00000509233.1:p.Pro1386Leu
ENST00000686255.1:n.3188C>T (ATP7A)
ENST00000686543.1:c.3923C>T (ATP7A)	ENSP00000509477.1:p.Pro1308Leu
ENST00000687086.1:c.4157C>T (ATP7A)	ENSP00000509566.1:p.Pro1386Leu
ENST00000689083.1:n.1452C>T (ATP7A)
ENST00000689767.1:c.4250C>T (ATP7A)	ENSP00000509406.1:p.Pro1417Leu
ENST00000692908.1:c.3923C>T (ATP7A)	ENSP00000508627.1:p.Pro1308Leu
ENST00000341514.11:c.4157C>T (ATP7A) MANE Select	ENSP00000345728.6:p.Pro1386Leu
ENST00000644362.1:c.-19-64364C>T (PGK1)	ENSP00000496140.1:n.-19-64364C>T
ENST00000341514.10:c.4157C>T (ATP7A)	ENSP00000345728.6:p.Pro1386Leu
ENST00000343533.9:c.3923C>T (ATP7A)	ENSP00000343026.5:p.Pro1308Leu
ENST00000350425.5:c.*3330C>T (ATP7A)	ENSP00000343678.5:n.*3330C>T
NM_000052.6:c.4157C>T (ATP7A)	NP_000043.4:p.Pro1386Leu
NM_001282224.1:c.3923C>T (ATP7A)	NP_001269153.1:p.Pro1308Leu
NR_104109.1:n.1367C>T (ATP7A)
NM_000052.7:c.4157C>T (ATP7A) MANE Select	NP_000043.4:p.Pro1386Leu
NR_104109.2:n.1330C>T (ATP7A)
NM_001282224.2:c.3923C>T (ATP7A)	NP_001269153.1:p.Pro1308Leu