Canonical Allele Identifier: CA331581471

Gene: ATP7A C4orf46P2 PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77910848T>C , CM000685.2:g.77910848T>C	GRCh38
NC_000023.10:g.77166345T>C , CM000685.1:g.77166345T>C	GRCh37
NC_000023.9:g.77053001T>C	NCBI36
NG_013224.2:g.5152T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.-22+13T>C (ATP7A) MANE Select	NP_000043.4:n.-22+13T>C
ENST00000341514.11:c.-22+13T>C (ATP7A) MANE Select	ENSP00000345728.6:n.-22+13T>C
NM_000052.6:c.-22+13T>C (ATP7A)	NP_000043.4:n.-22+13T>C
NM_001282224.1:c.-22+13T>C (ATP7A)	NP_001269153.1:n.-22+13T>C
NM_001282224.2:c.-22+13T>C (ATP7A)	NP_001269153.1:n.-22+13T>C
NR_104109.1:n.180+13T>C (ATP7A)
NR_104109.2:n.143+13T>C (ATP7A)
ENST00000341514.10:c.-22+13T>C (ATP7A)	ENSP00000345728.6:n.-22+13T>C
ENST00000343533.10:c.-94+13T>C (ATP7A)	ENSP00000343026.6:n.-94+13T>C
ENST00000343533.9:c.-22+13T>C (ATP7A)	ENSP00000343026.5:n.-22+13T>C
ENST00000350425.5:c.-22+13T>C (ATP7A)	ENSP00000343678.5:n.-22+13T>C
ENST00000602791.1:n.95+13T>C (C4orf46P2)
ENST00000602791.2:n.97+13T>C (C4orf46P2)
ENST00000642523.1:n.98+13T>C (ATP7A)
ENST00000642651.1:c.-76+13T>C (ATP7A)	ENSP00000495628.1:n.-76+13T>C
ENST00000644362.1:c.-20+13T>C (PGK1)	ENSP00000496140.1:n.-20+13T>C
ENST00000645094.1:c.-22+13T>C (ATP7A)	ENSP00000493605.1:n.-22+13T>C
ENST00000645454.1:c.-258+13T>C (ATP7A)	ENSP00000496603.1:n.-258+13T>C
ENST00000682742.2:n.97+13T>C (ATP7A)
ENST00000684798.1:c.-66+13T>C (ATP7A)	ENSP00000510429.1:n.-66+13T>C
ENST00000685208.1:n.97+13T>C (ATP7A)
ENST00000685264.1:c.-66+13T>C (ATP7A)	ENSP00000510136.1:n.-66+13T>C
ENST00000685434.1:n.97+13T>C (ATP7A)
ENST00000685885.1:c.-176+13T>C (ATP7A)	ENSP00000510005.1:n.-176+13T>C
ENST00000686033.1:c.-22+13T>C (ATP7A)	ENSP00000510693.1:n.-22+13T>C
ENST00000686050.1:c.-22+13T>C (ATP7A)	ENSP00000510562.1:n.-22+13T>C
ENST00000686088.1:n.154+13T>C (C4orf46P2)
ENST00000686133.1:c.-76+13T>C (ATP7A)	ENSP00000509233.1:n.-76+13T>C
ENST00000686416.1:n.97+13T>C (ATP7A)
ENST00000686464.1:c.-214+13T>C (ATP7A)	ENSP00000510468.1:n.-214+13T>C
ENST00000686480.1:c.-22+13T>C (ATP7A)	ENSP00000508978.1:n.-22+13T>C
ENST00000686515.1:n.119+13T>C (ATP7A)
ENST00000686543.1:c.-22+13T>C (ATP7A)	ENSP00000509477.1:n.-22+13T>C
ENST00000686560.1:c.-214+13T>C (ATP7A)	ENSP00000509431.1:n.-214+13T>C
ENST00000686688.1:c.-66+13T>C (ATP7A)	ENSP00000509416.1:n.-66+13T>C
ENST00000686896.1:c.-66+13T>C (ATP7A)	ENSP00000509538.1:n.-66+13T>C
ENST00000686999.1:n.98+13T>C (ATP7A)
ENST00000687082.1:n.97+13T>C (ATP7A)
ENST00000687086.1:c.-214+13T>C (ATP7A)	ENSP00000509566.1:n.-214+13T>C
ENST00000687325.1:n.90+13T>C (ATP7A)
ENST00000687599.1:c.-258+13T>C (ATP7A)	ENSP00000508745.1:n.-258+13T>C
ENST00000687628.1:n.80+13T>C (ATP7A)
ENST00000687984.1:c.-66+13T>C (ATP7A)	ENSP00000510772.1:n.-66+13T>C
ENST00000688165.1:c.-214+13T>C (ATP7A)	ENSP00000509828.1:n.-214+13T>C
ENST00000688249.1:c.-66+13T>C (ATP7A)	ENSP00000510644.1:n.-66+13T>C
ENST00000688338.1:c.-214+13T>C (ATP7A)	ENSP00000508672.1:n.-214+13T>C
ENST00000688746.1:n.131+13T>C (ATP7A)
ENST00000688889.1:c.-214+13T>C (ATP7A)	ENSP00000508610.1:n.-214+13T>C
ENST00000689530.1:c.-237+13T>C (ATP7A)	ENSP00000509707.1:n.-237+13T>C
ENST00000689541.1:n.96+13T>C (ATP7A)
ENST00000689649.1:c.-22+13T>C (ATP7A)	ENSP00000509277.1:n.-22+13T>C
ENST00000689731.1:c.-258+13T>C (ATP7A)	ENSP00000510791.1:n.-258+13T>C
ENST00000689767.1:c.-66+13T>C (ATP7A)	ENSP00000509406.1:n.-66+13T>C
ENST00000689891.1:c.-22+13T>C (ATP7A)	ENSP00000508974.1:n.-22+13T>C
ENST00000691152.1:c.-214+13T>C (ATP7A)	ENSP00000508843.1:n.-214+13T>C
ENST00000691456.1:n.78+13T>C (ATP7A)
ENST00000692110.1:c.-22+13T>C (ATP7A)	ENSP00000509366.1:n.-22+13T>C
ENST00000692729.1:c.-22+13T>C (ATP7A)	ENSP00000509207.1:n.-22+13T>C
ENST00000692908.1:c.-214+13T>C (ATP7A)	ENSP00000508627.1:n.-214+13T>C
ENST00000693051.1:c.-22+13T>C (ATP7A)	ENSP00000510332.1:n.-22+13T>C
ENST00000693167.1:c.-22+13T>C (ATP7A)	ENSP00000509601.1:n.-22+13T>C
ENST00000693387.1:c.-22+13T>C (ATP7A)	ENSP00000508732.1:n.-22+13T>C
ENST00000693398.1:c.-22+13T>C (ATP7A)	ENSP00000510089.1:n.-22+13T>C