Canonical Allele Identifier: CA413598442

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1724086
• ClinVar RCV Id: RCV002306641
• MyVariant Identifiers: chrX:g.77267109C>T (hg19) ; chrX:g.78011612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011612C>T , CM000685.2:g.78011612C>T	GRCh38
NC_000023.10:g.77267109C>T , CM000685.1:g.77267109C>T	GRCh37
NC_000023.9:g.77153765C>T	NCBI36
NG_013224.2:g.105916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2140C>T (ATP7A)	ENSP00000343026.6:p.Gln714Ter
ENST00000682475.1:n.761C>T (ATP7A)
ENST00000685264.1:c.2110C>T (ATP7A)	ENSP00000510136.1:p.Gln704Ter
ENST00000686033.1:c.2110C>T (ATP7A)	ENSP00000510693.1:p.Gln704Ter
ENST00000686133.1:c.2110C>T (ATP7A)	ENSP00000509233.1:p.Gln704Ter
ENST00000686255.1:n.1141C>T (ATP7A)
ENST00000686480.1:c.2110C>T (ATP7A)	ENSP00000508978.1:p.Gln704Ter
ENST00000686515.1:n.2250C>T (ATP7A)
ENST00000686543.1:c.2110C>T (ATP7A)	ENSP00000509477.1:p.Gln704Ter
ENST00000686688.1:c.2110C>T (ATP7A)	ENSP00000509416.1:p.Gln704Ter
ENST00000686999.1:n.2421C>T (ATP7A)
ENST00000687086.1:c.2110C>T (ATP7A)	ENSP00000509566.1:p.Gln704Ter
ENST00000687628.1:n.4319C>T (ATP7A)
ENST00000688746.1:n.2262C>T (ATP7A)
ENST00000689514.1:n.152C>T (ATP7A)
ENST00000689530.1:c.2110C>T (ATP7A)	ENSP00000509707.1:p.Gln704Ter
ENST00000689649.1:c.2110C>T (ATP7A)	ENSP00000509277.1:p.Gln704Ter
ENST00000689767.1:c.2203C>T (ATP7A)	ENSP00000509406.1:p.Gln735Ter
ENST00000689872.1:c.*59C>T (ATP7A)	ENSP00000509373.1:n.*59C>T
ENST00000692110.1:c.2026C>T (ATP7A)	ENSP00000509366.1:p.Gln676Ter
ENST00000692908.1:c.2110C>T (ATP7A)	ENSP00000508627.1:p.Gln704Ter
ENST00000693398.1:c.2110C>T (ATP7A)	ENSP00000510089.1:p.Gln704Ter
ENST00000341514.11:c.2110C>T (ATP7A) MANE Select	ENSP00000345728.6:p.Gln704Ter
ENST00000644362.1:c.-19-98255C>T (PGK1)	ENSP00000496140.1:n.-19-98255C>T
ENST00000645094.1:c.*2024C>T (ATP7A)	ENSP00000493605.1:n.*2024C>T
ENST00000341514.10:c.2110C>T (ATP7A)	ENSP00000345728.6:p.Gln704Ter
ENST00000343533.9:c.2110C>T (ATP7A)	ENSP00000343026.5:p.Gln704Ter
ENST00000350425.5:c.*1283C>T (ATP7A)	ENSP00000343678.5:n.*1283C>T
NM_000052.6:c.2110C>T (ATP7A)	NP_000043.4:p.Gln704Ter
NM_001282224.1:c.2110C>T (ATP7A)	NP_001269153.1:p.Gln704Ter
NR_104109.1:n.322-19788C>T (ATP7A)
NM_000052.7:c.2110C>T (ATP7A) MANE Select	NP_000043.4:p.Gln704Ter
NR_104109.2:n.285-19788C>T (ATP7A)
NM_001282224.2:c.2110C>T (ATP7A)	NP_001269153.1:p.Gln704Ter