Canonical Allele Identifier: CA413603940

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289148G>T (hg19) ; chrX:g.78033650G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033650G>T , CM000685.2:g.78033650G>T	GRCh38
NC_000023.10:g.77289148G>T , CM000685.1:g.77289148G>T	GRCh37
NC_000023.9:g.77175804G>T	NCBI36
NG_013224.2:g.127954G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3370G>T (ATP7A)	ENSP00000343026.6:p.Val1124Leu
ENST00000682475.1:n.1757G>T (ATP7A)
ENST00000685033.1:c.604G>T (ATP7A)	ENSP00000509269.1:p.Val202Leu
ENST00000685264.1:c.3340G>T (ATP7A)	ENSP00000510136.1:p.Val1114Leu
ENST00000686033.1:c.3145G>T (ATP7A)	ENSP00000510693.1:p.Val1049Leu
ENST00000686133.1:c.3340G>T (ATP7A)	ENSP00000509233.1:p.Val1114Leu
ENST00000686255.1:n.2371G>T (ATP7A)
ENST00000686543.1:c.3106G>T (ATP7A)	ENSP00000509477.1:p.Val1036Leu
ENST00000687086.1:c.3340G>T (ATP7A)	ENSP00000509566.1:p.Val1114Leu
ENST00000689514.1:n.1382G>T (ATP7A)
ENST00000689767.1:c.3433G>T (ATP7A)	ENSP00000509406.1:p.Val1145Leu
ENST00000692908.1:c.3106G>T (ATP7A)	ENSP00000508627.1:p.Val1036Leu
ENST00000341514.11:c.3340G>T (ATP7A) MANE Select	ENSP00000345728.6:p.Val1114Leu
ENST00000644362.1:c.-19-76217G>T (PGK1)	ENSP00000496140.1:n.-19-76217G>T
ENST00000645094.1:c.*3254G>T (ATP7A)	ENSP00000493605.1:n.*3254G>T
ENST00000341514.10:c.3340G>T (ATP7A)	ENSP00000345728.6:p.Val1114Leu
ENST00000343533.9:c.3106G>T (ATP7A)	ENSP00000343026.5:p.Val1036Leu
ENST00000350425.5:c.*2513G>T (ATP7A)	ENSP00000343678.5:n.*2513G>T
NM_000052.6:c.3340G>T (ATP7A)	NP_000043.4:p.Val1114Leu
NM_001282224.1:c.3106G>T (ATP7A)	NP_001269153.1:p.Val1036Leu
NR_104109.1:n.550G>T (ATP7A)
NM_000052.7:c.3340G>T (ATP7A) MANE Select	NP_000043.4:p.Val1114Leu
NR_104109.2:n.513G>T (ATP7A)
NM_001282224.2:c.3106G>T (ATP7A)	NP_001269153.1:p.Val1036Leu