Canonical Allele Identifier: CA413598186

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77267001A>T (hg19) ; chrX:g.78011504A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011504A>T , CM000685.2:g.78011504A>T	GRCh38
NC_000023.10:g.77267001A>T , CM000685.1:g.77267001A>T	GRCh37
NC_000023.9:g.77153657A>T	NCBI36
NG_013224.2:g.105808A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2032A>T (ATP7A)	ENSP00000343026.6:p.Met678Leu
ENST00000682475.1:n.653A>T (ATP7A)
ENST00000685264.1:c.2002A>T (ATP7A)	ENSP00000510136.1:p.Met668Leu
ENST00000686033.1:c.2002A>T (ATP7A)	ENSP00000510693.1:p.Met668Leu
ENST00000686133.1:c.2002A>T (ATP7A)	ENSP00000509233.1:p.Met668Leu
ENST00000686255.1:n.1033A>T (ATP7A)
ENST00000686480.1:c.2002A>T (ATP7A)	ENSP00000508978.1:p.Met668Leu
ENST00000686515.1:n.2142A>T (ATP7A)
ENST00000686543.1:c.2002A>T (ATP7A)	ENSP00000509477.1:p.Met668Leu
ENST00000686688.1:c.2002A>T (ATP7A)	ENSP00000509416.1:p.Met668Leu
ENST00000686999.1:n.2313A>T (ATP7A)
ENST00000687086.1:c.2002A>T (ATP7A)	ENSP00000509566.1:p.Met668Leu
ENST00000687628.1:n.4211A>T (ATP7A)
ENST00000688746.1:n.2154A>T (ATP7A)
ENST00000689514.1:n.44A>T (ATP7A)
ENST00000689530.1:c.2002A>T (ATP7A)	ENSP00000509707.1:p.Met668Leu
ENST00000689649.1:c.2002A>T (ATP7A)	ENSP00000509277.1:p.Met668Leu
ENST00000689767.1:c.2095A>T (ATP7A)	ENSP00000509406.1:p.Met699Leu
ENST00000689872.1:c.1925A>T (ATP7A)	ENSP00000509373.1:p.Asp642Val
ENST00000692110.1:c.1918A>T (ATP7A)	ENSP00000509366.1:p.Met640Leu
ENST00000692908.1:c.2002A>T (ATP7A)	ENSP00000508627.1:p.Met668Leu
ENST00000693398.1:c.2002A>T (ATP7A)	ENSP00000510089.1:p.Met668Leu
ENST00000341514.11:c.2002A>T (ATP7A) MANE Select	ENSP00000345728.6:p.Met668Leu
ENST00000644362.1:c.-19-98363A>T (PGK1)	ENSP00000496140.1:n.-19-98363A>T
ENST00000645094.1:c.*1916A>T (ATP7A)	ENSP00000493605.1:n.*1916A>T
ENST00000341514.10:c.2002A>T (ATP7A)	ENSP00000345728.6:p.Met668Leu
ENST00000343533.9:c.2002A>T (ATP7A)	ENSP00000343026.5:p.Met668Leu
ENST00000350425.5:c.*1175A>T (ATP7A)	ENSP00000343678.5:n.*1175A>T
NM_000052.6:c.2002A>T (ATP7A)	NP_000043.4:p.Met668Leu
NM_001282224.1:c.2002A>T (ATP7A)	NP_001269153.1:p.Met668Leu
NR_104109.1:n.322-19896A>T (ATP7A)
NM_000052.7:c.2002A>T (ATP7A) MANE Select	NP_000043.4:p.Met668Leu
NR_104109.2:n.285-19896A>T (ATP7A)
NM_001282224.2:c.2002A>T (ATP7A)	NP_001269153.1:p.Met668Leu