Canonical Allele Identifier: CA413603849

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2571440
• ClinVar RCV Id: RCV003312840
• MyVariant Identifiers: chrX:g.77289107T>C (hg19) ; chrX:g.78033609T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033609T>C , CM000685.2:g.78033609T>C	GRCh38
NC_000023.10:g.77289107T>C , CM000685.1:g.77289107T>C	GRCh37
NC_000023.9:g.77175763T>C	NCBI36
NG_013224.2:g.127913T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3329T>C (ATP7A)	ENSP00000343026.6:p.Leu1110Pro
ENST00000682475.1:n.1716T>C (ATP7A)
ENST00000685033.1:c.563T>C (ATP7A)	ENSP00000509269.1:p.Leu188Pro
ENST00000685264.1:c.3299T>C (ATP7A)	ENSP00000510136.1:p.Leu1100Pro
ENST00000686033.1:c.3104T>C (ATP7A)	ENSP00000510693.1:p.Leu1035Pro
ENST00000686133.1:c.3299T>C (ATP7A)	ENSP00000509233.1:p.Leu1100Pro
ENST00000686255.1:n.2330T>C (ATP7A)
ENST00000686543.1:c.3065T>C (ATP7A)	ENSP00000509477.1:p.Leu1022Pro
ENST00000687086.1:c.3299T>C (ATP7A)	ENSP00000509566.1:p.Leu1100Pro
ENST00000689514.1:n.1341T>C (ATP7A)
ENST00000689767.1:c.3392T>C (ATP7A)	ENSP00000509406.1:p.Leu1131Pro
ENST00000692908.1:c.3065T>C (ATP7A)	ENSP00000508627.1:p.Leu1022Pro
ENST00000341514.11:c.3299T>C (ATP7A) MANE Select	ENSP00000345728.6:p.Leu1100Pro
ENST00000644362.1:c.-19-76258T>C (PGK1)	ENSP00000496140.1:n.-19-76258T>C
ENST00000645094.1:c.*3213T>C (ATP7A)	ENSP00000493605.1:n.*3213T>C
ENST00000341514.10:c.3299T>C (ATP7A)	ENSP00000345728.6:p.Leu1100Pro
ENST00000343533.9:c.3065T>C (ATP7A)	ENSP00000343026.5:p.Leu1022Pro
ENST00000350425.5:c.*2472T>C (ATP7A)	ENSP00000343678.5:n.*2472T>C
NM_000052.6:c.3299T>C (ATP7A)	NP_000043.4:p.Leu1100Pro
NM_001282224.1:c.3065T>C (ATP7A)	NP_001269153.1:p.Leu1022Pro
NR_104109.1:n.509T>C (ATP7A)
NM_000052.7:c.3299T>C (ATP7A) MANE Select	NP_000043.4:p.Leu1100Pro
NR_104109.2:n.472T>C (ATP7A)
NM_001282224.2:c.3065T>C (ATP7A)	NP_001269153.1:p.Leu1022Pro