Canonical Allele Identifier: CA413604028

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289188A>T (hg19) ; chrX:g.78033690A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033690A>T , CM000685.2:g.78033690A>T	GRCh38
NC_000023.10:g.77289188A>T , CM000685.1:g.77289188A>T	GRCh37
NC_000023.9:g.77175844A>T	NCBI36
NG_013224.2:g.127994A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3410A>T (ATP7A)	ENSP00000343026.6:p.Glu1137Val
ENST00000682475.1:n.1797A>T (ATP7A)
ENST00000685033.1:c.644A>T (ATP7A)	ENSP00000509269.1:p.Glu215Val
ENST00000685264.1:c.3380A>T (ATP7A)	ENSP00000510136.1:p.Glu1127Val
ENST00000686033.1:c.3185A>T (ATP7A)	ENSP00000510693.1:p.Glu1062Val
ENST00000686133.1:c.3380A>T (ATP7A)	ENSP00000509233.1:p.Glu1127Val
ENST00000686255.1:n.2411A>T (ATP7A)
ENST00000686543.1:c.3146A>T (ATP7A)	ENSP00000509477.1:p.Glu1049Val
ENST00000687086.1:c.3380A>T (ATP7A)	ENSP00000509566.1:p.Glu1127Val
ENST00000689514.1:n.1422A>T (ATP7A)
ENST00000689767.1:c.3473A>T (ATP7A)	ENSP00000509406.1:p.Glu1158Val
ENST00000692908.1:c.3146A>T (ATP7A)	ENSP00000508627.1:p.Glu1049Val
ENST00000341514.11:c.3380A>T (ATP7A) MANE Select	ENSP00000345728.6:p.Glu1127Val
ENST00000644362.1:c.-19-76177A>T (PGK1)	ENSP00000496140.1:n.-19-76177A>T
ENST00000645094.1:c.*3294A>T (ATP7A)	ENSP00000493605.1:n.*3294A>T
ENST00000341514.10:c.3380A>T (ATP7A)	ENSP00000345728.6:p.Glu1127Val
ENST00000343533.9:c.3146A>T (ATP7A)	ENSP00000343026.5:p.Glu1049Val
ENST00000350425.5:c.*2553A>T (ATP7A)	ENSP00000343678.5:n.*2553A>T
NM_000052.6:c.3380A>T (ATP7A)	NP_000043.4:p.Glu1127Val
NM_001282224.1:c.3146A>T (ATP7A)	NP_001269153.1:p.Glu1049Val
NR_104109.1:n.590A>T (ATP7A)
NM_000052.7:c.3380A>T (ATP7A) MANE Select	NP_000043.4:p.Glu1127Val
NR_104109.2:n.553A>T (ATP7A)
NM_001282224.2:c.3146A>T (ATP7A)	NP_001269153.1:p.Glu1049Val