Canonical Allele Identifier: CA413603412

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78029444G>C , CM000685.2:g.78029444G>C	GRCh38
NC_000023.10:g.77284941G>C , CM000685.1:g.77284941G>C	GRCh37
NC_000023.9:g.77171597G>C	NCBI36
NG_013224.2:g.123748G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.3111G>C (ATP7A) MANE Select	NP_000043.4:p.Lys1037Asn
ENST00000341514.11:c.3111G>C (ATP7A) MANE Select	ENSP00000345728.6:p.Lys1037Asn
NM_000052.6:c.3111G>C (ATP7A)	NP_000043.4:p.Lys1037Asn
NM_001282224.1:c.2877G>C (ATP7A)	NP_001269153.1:p.Lys959Asn
NM_001282224.2:c.2877G>C (ATP7A)	NP_001269153.1:p.Lys959Asn
NR_104109.1:n.322-1956G>C (ATP7A)
NR_104109.2:n.285-1956G>C (ATP7A)
ENST00000341514.10:c.3111G>C (ATP7A)	ENSP00000345728.6:p.Lys1037Asn
ENST00000343533.10:c.3141G>C (ATP7A)	ENSP00000343026.6:p.Lys1047Asn
ENST00000343533.9:c.2877G>C (ATP7A)	ENSP00000343026.5:p.Lys959Asn
ENST00000350425.5:c.*2284G>C (ATP7A)	ENSP00000343678.5:n.*2284G>C
ENST00000644362.1:c.-19-80423G>C (PGK1)	ENSP00000496140.1:n.-19-80423G>C
ENST00000645094.1:c.*3025G>C (ATP7A)	ENSP00000493605.1:n.*3025G>C
ENST00000682475.1:n.1528G>C (ATP7A)
ENST00000685033.1:c.376-1956G>C (ATP7A)	ENSP00000509269.1:n.376-1956G>C
ENST00000685264.1:c.3111G>C (ATP7A)	ENSP00000510136.1:p.Lys1037Asn
ENST00000686033.1:c.2917-1956G>C (ATP7A)	ENSP00000510693.1:n.2917-1956G>C
ENST00000686133.1:c.3111G>C (ATP7A)	ENSP00000509233.1:p.Lys1037Asn
ENST00000686255.1:n.2142G>C (ATP7A)
ENST00000686543.1:c.2877G>C (ATP7A)	ENSP00000509477.1:p.Lys959Asn
ENST00000687086.1:c.3111G>C (ATP7A)	ENSP00000509566.1:p.Lys1037Asn
ENST00000689514.1:n.1153G>C (ATP7A)
ENST00000689767.1:c.3204G>C (ATP7A)	ENSP00000509406.1:p.Lys1068Asn
ENST00000692908.1:c.2877G>C (ATP7A)	ENSP00000508627.1:p.Lys959Asn