Canonical Allele Identifier: CA413604144

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289236A>C (hg19) ; chrX:g.78033738A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033738A>C , CM000685.2:g.78033738A>C	GRCh38
NC_000023.10:g.77289236A>C , CM000685.1:g.77289236A>C	GRCh37
NC_000023.9:g.77175892A>C	NCBI36
NG_013224.2:g.128042A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3458A>C (ATP7A)	ENSP00000343026.6:p.Lys1153Thr
ENST00000682475.1:n.1845A>C (ATP7A)
ENST00000685033.1:c.692A>C (ATP7A)	ENSP00000509269.1:p.Lys231Thr
ENST00000685264.1:c.3428A>C (ATP7A)	ENSP00000510136.1:p.Lys1143Thr
ENST00000686033.1:c.3233A>C (ATP7A)	ENSP00000510693.1:p.Lys1078Thr
ENST00000686133.1:c.3428A>C (ATP7A)	ENSP00000509233.1:p.Lys1143Thr
ENST00000686255.1:n.2459A>C (ATP7A)
ENST00000686543.1:c.3194A>C (ATP7A)	ENSP00000509477.1:p.Lys1065Thr
ENST00000687086.1:c.3428A>C (ATP7A)	ENSP00000509566.1:p.Lys1143Thr
ENST00000689514.1:n.1470A>C (ATP7A)
ENST00000689767.1:c.3521A>C (ATP7A)	ENSP00000509406.1:p.Lys1174Thr
ENST00000692908.1:c.3194A>C (ATP7A)	ENSP00000508627.1:p.Lys1065Thr
ENST00000341514.11:c.3428A>C (ATP7A) MANE Select	ENSP00000345728.6:p.Lys1143Thr
ENST00000644362.1:c.-19-76129A>C (PGK1)	ENSP00000496140.1:n.-19-76129A>C
ENST00000645094.1:c.*3342A>C (ATP7A)	ENSP00000493605.1:n.*3342A>C
ENST00000341514.10:c.3428A>C (ATP7A)	ENSP00000345728.6:p.Lys1143Thr
ENST00000343533.9:c.3194A>C (ATP7A)	ENSP00000343026.5:p.Lys1065Thr
ENST00000350425.5:c.*2601A>C (ATP7A)	ENSP00000343678.5:n.*2601A>C
NM_000052.6:c.3428A>C (ATP7A)	NP_000043.4:p.Lys1143Thr
NM_001282224.1:c.3194A>C (ATP7A)	NP_001269153.1:p.Lys1065Thr
NR_104109.1:n.638A>C (ATP7A)
NM_000052.7:c.3428A>C (ATP7A) MANE Select	NP_000043.4:p.Lys1143Thr
NR_104109.2:n.601A>C (ATP7A)
NM_001282224.2:c.3194A>C (ATP7A)	NP_001269153.1:p.Lys1065Thr