Canonical Allele Identifier: CA413597064

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1725877
• ClinVar RCV Id: RCV002306848
• MyVariant Identifiers: chrX:g.77264659A>T (hg19) ; chrX:g.78009162A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009162A>T , CM000685.2:g.78009162A>T	GRCh38
NC_000023.10:g.77264659A>T , CM000685.1:g.77264659A>T	GRCh37
NC_000023.9:g.77151315A>T	NCBI36
NG_013224.2:g.103466A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1798A>T (ATP7A)	ENSP00000343026.6:p.Arg600Ter
ENST00000682742.2:n.1930A>T (ATP7A)
ENST00000685264.1:c.1768A>T (ATP7A)	ENSP00000510136.1:p.Arg590Ter
ENST00000685434.1:n.1802A>T (ATP7A)
ENST00000686033.1:c.1768A>T (ATP7A)	ENSP00000510693.1:p.Arg590Ter
ENST00000686133.1:c.1768A>T (ATP7A)	ENSP00000509233.1:p.Arg590Ter
ENST00000686416.1:n.2122A>T (ATP7A)
ENST00000686480.1:c.1768A>T (ATP7A)	ENSP00000508978.1:p.Arg590Ter
ENST00000686515.1:n.1908A>T (ATP7A)
ENST00000686543.1:c.1768A>T (ATP7A)	ENSP00000509477.1:p.Arg590Ter
ENST00000686688.1:c.1768A>T (ATP7A)	ENSP00000509416.1:p.Arg590Ter
ENST00000686999.1:n.2079A>T (ATP7A)
ENST00000687086.1:c.1768A>T (ATP7A)	ENSP00000509566.1:p.Arg590Ter
ENST00000687628.1:n.1869A>T (ATP7A)
ENST00000688746.1:n.1920A>T (ATP7A)
ENST00000689530.1:c.1768A>T (ATP7A)	ENSP00000509707.1:p.Arg590Ter
ENST00000689541.1:n.2077A>T (ATP7A)
ENST00000689649.1:c.1768A>T (ATP7A)	ENSP00000509277.1:p.Arg590Ter
ENST00000689767.1:c.1861A>T (ATP7A)	ENSP00000509406.1:p.Arg621Ter
ENST00000689872.1:c.1768A>T (ATP7A)	ENSP00000509373.1:p.Arg590Ter
ENST00000692110.1:c.1684A>T (ATP7A)	ENSP00000509366.1:p.Arg562Ter
ENST00000692908.1:c.1768A>T (ATP7A)	ENSP00000508627.1:p.Arg590Ter
ENST00000693387.1:c.*1697A>T (ATP7A)	ENSP00000508732.1:n.*1697A>T
ENST00000693398.1:c.1768A>T (ATP7A)	ENSP00000510089.1:p.Arg590Ter
ENST00000341514.11:c.1768A>T (ATP7A) MANE Select	ENSP00000345728.6:p.Arg590Ter
ENST00000644362.1:c.-20+98327A>T (PGK1)	ENSP00000496140.1:n.-20+98327A>T
ENST00000645094.1:c.*1682A>T (ATP7A)	ENSP00000493605.1:n.*1682A>T
ENST00000341514.10:c.1768A>T (ATP7A)	ENSP00000345728.6:p.Arg590Ter
ENST00000343533.9:c.1768A>T (ATP7A)	ENSP00000343026.5:p.Arg590Ter
ENST00000350425.5:c.*941A>T (ATP7A)	ENSP00000343678.5:n.*941A>T
NM_000052.6:c.1768A>T (ATP7A)	NP_000043.4:p.Arg590Ter
NM_001282224.1:c.1768A>T (ATP7A)	NP_001269153.1:p.Arg590Ter
NR_104109.1:n.322-22238A>T (ATP7A)
NM_000052.7:c.1768A>T (ATP7A) MANE Select	NP_000043.4:p.Arg590Ter
NR_104109.2:n.285-22238A>T (ATP7A)
NM_001282224.2:c.1768A>T (ATP7A)	NP_001269153.1:p.Arg590Ter