Canonical Allele Identifier: CA413595168

Gene: ATP7A PGK1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78003072G>C , CM000685.2:g.78003072G>C	GRCh38
NC_000023.10:g.77258569G>C , CM000685.1:g.77258569G>C	GRCh37
NC_000023.9:g.77145225G>C	NCBI36
NG_013224.2:g.97376G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1574-1G>C (ATP7A)	ENSP00000343026.6:n.1574-1G>C
ENST00000682742.2:n.1706-1G>C (ATP7A)
ENST00000685264.1:c.1544-1G>C (ATP7A)	ENSP00000510136.1:n.1544-1G>C
ENST00000685434.1:n.1578-1G>C (ATP7A)
ENST00000686033.1:c.1544-1G>C (ATP7A)	ENSP00000510693.1:n.1544-1G>C
ENST00000686133.1:c.1544-1G>C (ATP7A)	ENSP00000509233.1:n.1544-1G>C
ENST00000686416.1:n.1898-1G>C (ATP7A)
ENST00000686480.1:c.1544-1G>C (ATP7A)	ENSP00000508978.1:n.1544-1G>C
ENST00000686515.1:n.1684-1G>C (ATP7A)
ENST00000686543.1:c.1544-1G>C (ATP7A)	ENSP00000509477.1:n.1544-1G>C
ENST00000686688.1:c.1544-1G>C (ATP7A)	ENSP00000509416.1:n.1544-1G>C
ENST00000686999.1:n.1855-1G>C (ATP7A)
ENST00000687086.1:c.1544-1G>C (ATP7A)	ENSP00000509566.1:n.1544-1G>C
ENST00000687416.1:c.1544-1G>C (ATP7A)	ENSP00000510310.1:n.1544-1G>C
ENST00000687628.1:n.1645-1G>C (ATP7A)
ENST00000688249.1:c.1544-1G>C (ATP7A)	ENSP00000510644.1:n.1544-1G>C
ENST00000688338.1:c.*675G>C (ATP7A)	ENSP00000508672.1:n.*675G>C
ENST00000688746.1:n.1696-1G>C (ATP7A)
ENST00000689530.1:c.1544-1G>C (ATP7A)	ENSP00000509707.1:n.1544-1G>C
ENST00000689541.1:n.1853-1G>C (ATP7A)
ENST00000689649.1:c.1544-1G>C (ATP7A)	ENSP00000509277.1:n.1544-1G>C
ENST00000689767.1:c.1637-1G>C (ATP7A)	ENSP00000509406.1:n.1637-1G>C
ENST00000689872.1:c.1544-1G>C (ATP7A)	ENSP00000509373.1:n.1544-1G>C
ENST00000692110.1:c.1460-1G>C (ATP7A)	ENSP00000509366.1:n.1460-1G>C
ENST00000692908.1:c.1544-1G>C (ATP7A)	ENSP00000508627.1:n.1544-1G>C
ENST00000693051.1:c.1544-1G>C (ATP7A)	ENSP00000510332.1:n.1544-1G>C
ENST00000693387.1:c.*1473-1G>C (ATP7A)	ENSP00000508732.1:n.*1473-1G>C
ENST00000693398.1:c.1544-1G>C (ATP7A)	ENSP00000510089.1:n.1544-1G>C
ENST00000341514.11:c.1544-1G>C (ATP7A) MANE Select	ENSP00000345728.6:n.1544-1G>C
ENST00000644362.1:c.-20+92237G>C (PGK1)	ENSP00000496140.1:n.-20+92237G>C
ENST00000645094.1:c.*1458-1G>C (ATP7A)	ENSP00000493605.1:n.*1458-1G>C
ENST00000341514.10:c.1544-1G>C (ATP7A)	ENSP00000345728.6:n.1544-1G>C
ENST00000343533.9:c.1544-1G>C (ATP7A)	ENSP00000343026.5:n.1544-1G>C
ENST00000350425.5:c.*717-1G>C (ATP7A)	ENSP00000343678.5:n.*717-1G>C
NM_000052.6:c.1544-1G>C (ATP7A)	NP_000043.4:n.1544-1G>C
NM_001282224.1:c.1544-1G>C (ATP7A)	NP_001269153.1:n.1544-1G>C
NR_104109.1:n.322-28328G>C (ATP7A)
NM_000052.7:c.1544-1G>C (ATP7A) MANE Select	NP_000043.4:n.1544-1G>C
NR_104109.2:n.285-28328G>C (ATP7A)
NM_001282224.2:c.1544-1G>C (ATP7A)	NP_001269153.1:n.1544-1G>C