Canonical Allele Identifier: CA517073674

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2174515
• ClinVar RCV Id: RCV002587939
• gnomAD v4: X-78033670-C-T
• MyVariant Identifiers: chrX:g.77289168C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033670C>T , CM000685.2:g.78033670C>T	GRCh38
NC_000023.10:g.77289168C>T , CM000685.1:g.77289168C>T	GRCh37
NC_000023.9:g.77175824C>T	NCBI36
NG_013224.2:g.127974C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3390C>T (ATP7A)	ENSP00000343026.6:p.Ser1130=
ENST00000682475.1:n.1777C>T (ATP7A)
ENST00000685033.1:c.624C>T (ATP7A)	ENSP00000509269.1:p.Ser208=
ENST00000685264.1:c.3360C>T (ATP7A)	ENSP00000510136.1:p.Ser1120=
ENST00000686033.1:c.3165C>T (ATP7A)	ENSP00000510693.1:p.Ser1055=
ENST00000686133.1:c.3360C>T (ATP7A)	ENSP00000509233.1:p.Ser1120=
ENST00000686255.1:n.2391C>T (ATP7A)
ENST00000686543.1:c.3126C>T (ATP7A)	ENSP00000509477.1:p.Ser1042=
ENST00000687086.1:c.3360C>T (ATP7A)	ENSP00000509566.1:p.Ser1120=
ENST00000689514.1:n.1402C>T (ATP7A)
ENST00000689767.1:c.3453C>T (ATP7A)	ENSP00000509406.1:p.Ser1151=
ENST00000692908.1:c.3126C>T (ATP7A)	ENSP00000508627.1:p.Ser1042=
ENST00000341514.11:c.3360C>T (ATP7A) MANE Select	ENSP00000345728.6:p.Ser1120=
ENST00000644362.1:c.-19-76197C>T (PGK1)	ENSP00000496140.1:n.-19-76197C>T
ENST00000645094.1:c.*3274C>T (ATP7A)	ENSP00000493605.1:n.*3274C>T
ENST00000341514.10:c.3360C>T (ATP7A)	ENSP00000345728.6:p.Ser1120=
ENST00000343533.9:c.3126C>T (ATP7A)	ENSP00000343026.5:p.Ser1042=
ENST00000350425.5:c.*2533C>T (ATP7A)	ENSP00000343678.5:n.*2533C>T
NM_000052.6:c.3360C>T (ATP7A)	NP_000043.4:p.Ser1120=
NM_001282224.1:c.3126C>T (ATP7A)	NP_001269153.1:p.Ser1042=
NR_104109.1:n.570C>T (ATP7A)
NM_000052.7:c.3360C>T (ATP7A) MANE Select	NP_000043.4:p.Ser1120=
NR_104109.2:n.533C>T (ATP7A)
NM_001282224.2:c.3126C>T (ATP7A)	NP_001269153.1:p.Ser1042=