Canonical Allele Identifier: CA256075

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 11794
• ClinVar RCV Id: RCV000012561 ; RCV000789727 ; RCV001696175
• dbSNP Id: rs267606673
• MyVariant Identifiers: chrX:g.77284811C>T (hg19) ; chrX:g.78029314C>T (hg38)
• PubMed: PMID:14985388 ; PMID:20170900

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78029314C>T , CM000685.2:g.78029314C>T	GRCh38
NC_000023.10:g.77284811C>T , CM000685.1:g.77284811C>T	GRCh37
NC_000023.9:g.77171467C>T	NCBI36
NG_013224.2:g.123618C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3011C>T (ATP7A)	ENSP00000343026.6:p.Thr1004Ile
ENST00000682475.1:n.1398C>T (ATP7A)
ENST00000685033.1:c.376-2086C>T (ATP7A)	ENSP00000509269.1:n.376-2086C>T
ENST00000685264.1:c.2981C>T (ATP7A)	ENSP00000510136.1:p.Thr994Ile
ENST00000686033.1:c.2917-2086C>T (ATP7A)	ENSP00000510693.1:n.2917-2086C>T
ENST00000686133.1:c.2981C>T (ATP7A)	ENSP00000509233.1:p.Thr994Ile
ENST00000686255.1:n.2012C>T (ATP7A)
ENST00000686543.1:c.2747C>T (ATP7A)	ENSP00000509477.1:p.Thr916Ile
ENST00000687086.1:c.2981C>T (ATP7A)	ENSP00000509566.1:p.Thr994Ile
ENST00000689514.1:n.1023C>T (ATP7A)
ENST00000689767.1:c.3074C>T (ATP7A)	ENSP00000509406.1:p.Thr1025Ile
ENST00000692908.1:c.2747C>T (ATP7A)	ENSP00000508627.1:p.Thr916Ile
ENST00000341514.11:c.2981C>T (ATP7A) MANE Select	ENSP00000345728.6:p.Thr994Ile
ENST00000644362.1:c.-19-80553C>T (PGK1)	ENSP00000496140.1:n.-19-80553C>T
ENST00000645094.1:c.*2895C>T (ATP7A)	ENSP00000493605.1:n.*2895C>T
ENST00000341514.10:c.2981C>T (ATP7A)	ENSP00000345728.6:p.Thr994Ile
ENST00000343533.9:c.2747C>T (ATP7A)	ENSP00000343026.5:p.Thr916Ile
ENST00000350425.5:c.*2154C>T (ATP7A)	ENSP00000343678.5:n.*2154C>T
NM_000052.6:c.2981C>T (ATP7A)	NP_000043.4:p.Thr994Ile
NM_001282224.1:c.2747C>T (ATP7A)	NP_001269153.1:p.Thr916Ile
NR_104109.1:n.322-2086C>T (ATP7A)
NM_000052.7:c.2981C>T (ATP7A) MANE Select	NP_000043.4:p.Thr994Ile
NR_104109.2:n.285-2086C>T (ATP7A)
NM_001282224.2:c.2747C>T (ATP7A)	NP_001269153.1:p.Thr916Ile