Canonical Allele Identifier: CA10459515

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs782089964
• ExAC: X:77301014 G / A
• gnomAD v2: X-77301014-G-A
• gnomAD v4: X-78045517-G-A
• MyVariant Identifiers: chrX:g.77301014G>A (hg19) ; chrX:g.78045517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78045517G>A , CM000685.2:g.78045517G>A	GRCh38
NC_000023.10:g.77301014G>A , CM000685.1:g.77301014G>A	GRCh37
NC_000023.9:g.77187670G>A	NCBI36
NG_013224.2:g.139821G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.4201G>A (ATP7A)	ENSP00000343026.6:p.Ala1401Thr
ENST00000682475.1:n.2588G>A (ATP7A)
ENST00000685033.1:c.1435G>A (ATP7A)	ENSP00000509269.1:p.Ala479Thr
ENST00000685264.1:c.4171G>A (ATP7A)	ENSP00000510136.1:p.Ala1391Thr
ENST00000686033.1:c.3976G>A (ATP7A)	ENSP00000510693.1:p.Ala1326Thr
ENST00000686133.1:c.4171G>A (ATP7A)	ENSP00000509233.1:p.Ala1391Thr
ENST00000686255.1:n.3202G>A (ATP7A)
ENST00000686543.1:c.3937G>A (ATP7A)	ENSP00000509477.1:p.Ala1313Thr
ENST00000687086.1:c.4171G>A (ATP7A)	ENSP00000509566.1:p.Ala1391Thr
ENST00000689083.1:n.1466G>A (ATP7A)
ENST00000689767.1:c.4264G>A (ATP7A)	ENSP00000509406.1:p.Ala1422Thr
ENST00000692908.1:c.3937G>A (ATP7A)	ENSP00000508627.1:p.Ala1313Thr
ENST00000341514.11:c.4171G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Ala1391Thr
ENST00000644362.1:c.-19-64350G>A (PGK1)	ENSP00000496140.1:n.-19-64350G>A
ENST00000341514.10:c.4171G>A (ATP7A)	ENSP00000345728.6:p.Ala1391Thr
ENST00000343533.9:c.3937G>A (ATP7A)	ENSP00000343026.5:p.Ala1313Thr
ENST00000350425.5:c.*3344G>A (ATP7A)	ENSP00000343678.5:n.*3344G>A
NM_000052.6:c.4171G>A (ATP7A)	NP_000043.4:p.Ala1391Thr
NM_001282224.1:c.3937G>A (ATP7A)	NP_001269153.1:p.Ala1313Thr
NR_104109.1:n.1381G>A (ATP7A)
NM_000052.7:c.4171G>A (ATP7A) MANE Select	NP_000043.4:p.Ala1391Thr
NR_104109.2:n.1344G>A (ATP7A)
NM_001282224.2:c.3937G>A (ATP7A)	NP_001269153.1:p.Ala1313Thr