Canonical Allele Identifier: CA517460781

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2952097
• ClinVar RCV Id: RCV003815248
• MyVariant Identifiers: chrX:g.77267100C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011603C>T , CM000685.2:g.78011603C>T	GRCh38
NC_000023.10:g.77267100C>T , CM000685.1:g.77267100C>T	GRCh37
NC_000023.9:g.77153756C>T	NCBI36
NG_013224.2:g.105907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2131C>T (ATP7A)	ENSP00000343026.6:p.Leu711=
ENST00000682475.1:n.752C>T (ATP7A)
ENST00000685264.1:c.2101C>T (ATP7A)	ENSP00000510136.1:p.Leu701=
ENST00000686033.1:c.2101C>T (ATP7A)	ENSP00000510693.1:p.Leu701=
ENST00000686133.1:c.2101C>T (ATP7A)	ENSP00000509233.1:p.Leu701=
ENST00000686255.1:n.1132C>T (ATP7A)
ENST00000686480.1:c.2101C>T (ATP7A)	ENSP00000508978.1:p.Leu701=
ENST00000686515.1:n.2241C>T (ATP7A)
ENST00000686543.1:c.2101C>T (ATP7A)	ENSP00000509477.1:p.Leu701=
ENST00000686688.1:c.2101C>T (ATP7A)	ENSP00000509416.1:p.Leu701=
ENST00000686999.1:n.2412C>T (ATP7A)
ENST00000687086.1:c.2101C>T (ATP7A)	ENSP00000509566.1:p.Leu701=
ENST00000687628.1:n.4310C>T (ATP7A)
ENST00000688746.1:n.2253C>T (ATP7A)
ENST00000689514.1:n.143C>T (ATP7A)
ENST00000689530.1:c.2101C>T (ATP7A)	ENSP00000509707.1:p.Leu701=
ENST00000689649.1:c.2101C>T (ATP7A)	ENSP00000509277.1:p.Leu701=
ENST00000689767.1:c.2194C>T (ATP7A)	ENSP00000509406.1:p.Leu732=
ENST00000689872.1:c.*50C>T (ATP7A)	ENSP00000509373.1:n.*50C>T
ENST00000692110.1:c.2017C>T (ATP7A)	ENSP00000509366.1:p.Leu673=
ENST00000692908.1:c.2101C>T (ATP7A)	ENSP00000508627.1:p.Leu701=
ENST00000693398.1:c.2101C>T (ATP7A)	ENSP00000510089.1:p.Leu701=
ENST00000341514.11:c.2101C>T (ATP7A) MANE Select	ENSP00000345728.6:p.Leu701=
ENST00000644362.1:c.-19-98264C>T (PGK1)	ENSP00000496140.1:n.-19-98264C>T
ENST00000645094.1:c.*2015C>T (ATP7A)	ENSP00000493605.1:n.*2015C>T
ENST00000341514.10:c.2101C>T (ATP7A)	ENSP00000345728.6:p.Leu701=
ENST00000343533.9:c.2101C>T (ATP7A)	ENSP00000343026.5:p.Leu701=
ENST00000350425.5:c.*1274C>T (ATP7A)	ENSP00000343678.5:n.*1274C>T
NM_000052.6:c.2101C>T (ATP7A)	NP_000043.4:p.Leu701=
NM_001282224.1:c.2101C>T (ATP7A)	NP_001269153.1:p.Leu701=
NR_104109.1:n.322-19797C>T (ATP7A)
NM_000052.7:c.2101C>T (ATP7A) MANE Select	NP_000043.4:p.Leu701=
NR_104109.2:n.285-19797C>T (ATP7A)
NM_001282224.2:c.2101C>T (ATP7A)	NP_001269153.1:p.Leu701=