Canonical Allele Identifier: CA517073630

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1962245
• ClinVar RCV Id: RCV002725993
• MyVariant Identifiers: chrX:g.77289162T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033664T>A , CM000685.2:g.78033664T>A	GRCh38
NC_000023.10:g.77289162T>A , CM000685.1:g.77289162T>A	GRCh37
NC_000023.9:g.77175818T>A	NCBI36
NG_013224.2:g.127968T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.3384T>A (ATP7A)	ENSP00000343026.6:p.Gly1128=
ENST00000682475.1:n.1771T>A (ATP7A)
ENST00000685033.1:c.618T>A (ATP7A)	ENSP00000509269.1:p.Gly206=
ENST00000685264.1:c.3354T>A (ATP7A)	ENSP00000510136.1:p.Gly1118=
ENST00000686033.1:c.3159T>A (ATP7A)	ENSP00000510693.1:p.Gly1053=
ENST00000686133.1:c.3354T>A (ATP7A)	ENSP00000509233.1:p.Gly1118=
ENST00000686255.1:n.2385T>A (ATP7A)
ENST00000686543.1:c.3120T>A (ATP7A)	ENSP00000509477.1:p.Gly1040=
ENST00000687086.1:c.3354T>A (ATP7A)	ENSP00000509566.1:p.Gly1118=
ENST00000689514.1:n.1396T>A (ATP7A)
ENST00000689767.1:c.3447T>A (ATP7A)	ENSP00000509406.1:p.Gly1149=
ENST00000692908.1:c.3120T>A (ATP7A)	ENSP00000508627.1:p.Gly1040=
ENST00000341514.11:c.3354T>A (ATP7A) MANE Select	ENSP00000345728.6:p.Gly1118=
ENST00000644362.1:c.-19-76203T>A (PGK1)	ENSP00000496140.1:n.-19-76203T>A
ENST00000645094.1:c.*3268T>A (ATP7A)	ENSP00000493605.1:n.*3268T>A
ENST00000341514.10:c.3354T>A (ATP7A)	ENSP00000345728.6:p.Gly1118=
ENST00000343533.9:c.3120T>A (ATP7A)	ENSP00000343026.5:p.Gly1040=
ENST00000350425.5:c.*2527T>A (ATP7A)	ENSP00000343678.5:n.*2527T>A
NM_000052.6:c.3354T>A (ATP7A)	NP_000043.4:p.Gly1118=
NM_001282224.1:c.3120T>A (ATP7A)	NP_001269153.1:p.Gly1040=
NR_104109.1:n.564T>A (ATP7A)
NM_000052.7:c.3354T>A (ATP7A) MANE Select	NP_000043.4:p.Gly1118=
NR_104109.2:n.527T>A (ATP7A)
NM_001282224.2:c.3120T>A (ATP7A)	NP_001269153.1:p.Gly1040=