Canonical Allele Identifier: CA413605816

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77301006T>G (hg19) ; chrX:g.78045509T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78045509T>G , CM000685.2:g.78045509T>G	GRCh38
NC_000023.10:g.77301006T>G , CM000685.1:g.77301006T>G	GRCh37
NC_000023.9:g.77187662T>G	NCBI36
NG_013224.2:g.139813T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.4193T>G (ATP7A)	ENSP00000343026.6:p.Met1398Arg
ENST00000682475.1:n.2580T>G (ATP7A)
ENST00000685033.1:c.1427T>G (ATP7A)	ENSP00000509269.1:p.Met476Arg
ENST00000685264.1:c.4163T>G (ATP7A)	ENSP00000510136.1:p.Met1388Arg
ENST00000686033.1:c.3968T>G (ATP7A)	ENSP00000510693.1:p.Met1323Arg
ENST00000686133.1:c.4163T>G (ATP7A)	ENSP00000509233.1:p.Met1388Arg
ENST00000686255.1:n.3194T>G (ATP7A)
ENST00000686543.1:c.3929T>G (ATP7A)	ENSP00000509477.1:p.Met1310Arg
ENST00000687086.1:c.4163T>G (ATP7A)	ENSP00000509566.1:p.Met1388Arg
ENST00000689083.1:n.1458T>G (ATP7A)
ENST00000689767.1:c.4256T>G (ATP7A)	ENSP00000509406.1:p.Met1419Arg
ENST00000692908.1:c.3929T>G (ATP7A)	ENSP00000508627.1:p.Met1310Arg
ENST00000341514.11:c.4163T>G (ATP7A) MANE Select	ENSP00000345728.6:p.Met1388Arg
ENST00000644362.1:c.-19-64358T>G (PGK1)	ENSP00000496140.1:n.-19-64358T>G
ENST00000341514.10:c.4163T>G (ATP7A)	ENSP00000345728.6:p.Met1388Arg
ENST00000343533.9:c.3929T>G (ATP7A)	ENSP00000343026.5:p.Met1310Arg
ENST00000350425.5:c.*3336T>G (ATP7A)	ENSP00000343678.5:n.*3336T>G
NM_000052.6:c.4163T>G (ATP7A)	NP_000043.4:p.Met1388Arg
NM_001282224.1:c.3929T>G (ATP7A)	NP_001269153.1:p.Met1310Arg
NR_104109.1:n.1373T>G (ATP7A)
NM_000052.7:c.4163T>G (ATP7A) MANE Select	NP_000043.4:p.Met1388Arg
NR_104109.2:n.1336T>G (ATP7A)
NM_001282224.2:c.3929T>G (ATP7A)	NP_001269153.1:p.Met1310Arg