Canonical Allele Identifier: CA517073362

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2939712
• ClinVar RCV Id: RCV003794878
• MyVariant Identifiers: chrX:g.77289121T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033623T>C , CM000685.2:g.78033623T>C	GRCh38
NC_000023.10:g.77289121T>C , CM000685.1:g.77289121T>C	GRCh37
NC_000023.9:g.77175777T>C	NCBI36
NG_013224.2:g.127927T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3343T>C (ATP7A)	ENSP00000343026.6:p.Leu1115=
ENST00000682475.1:n.1730T>C (ATP7A)
ENST00000685033.1:c.577T>C (ATP7A)	ENSP00000509269.1:p.Leu193=
ENST00000685264.1:c.3313T>C (ATP7A)	ENSP00000510136.1:p.Leu1105=
ENST00000686033.1:c.3118T>C (ATP7A)	ENSP00000510693.1:p.Leu1040=
ENST00000686133.1:c.3313T>C (ATP7A)	ENSP00000509233.1:p.Leu1105=
ENST00000686255.1:n.2344T>C (ATP7A)
ENST00000686543.1:c.3079T>C (ATP7A)	ENSP00000509477.1:p.Leu1027=
ENST00000687086.1:c.3313T>C (ATP7A)	ENSP00000509566.1:p.Leu1105=
ENST00000689514.1:n.1355T>C (ATP7A)
ENST00000689767.1:c.3406T>C (ATP7A)	ENSP00000509406.1:p.Leu1136=
ENST00000692908.1:c.3079T>C (ATP7A)	ENSP00000508627.1:p.Leu1027=
ENST00000341514.11:c.3313T>C (ATP7A) MANE Select	ENSP00000345728.6:p.Leu1105=
ENST00000644362.1:c.-19-76244T>C (PGK1)	ENSP00000496140.1:n.-19-76244T>C
ENST00000645094.1:c.*3227T>C (ATP7A)	ENSP00000493605.1:n.*3227T>C
ENST00000341514.10:c.3313T>C (ATP7A)	ENSP00000345728.6:p.Leu1105=
ENST00000343533.9:c.3079T>C (ATP7A)	ENSP00000343026.5:p.Leu1027=
ENST00000350425.5:c.*2486T>C (ATP7A)	ENSP00000343678.5:n.*2486T>C
NM_000052.6:c.3313T>C (ATP7A)	NP_000043.4:p.Leu1105=
NM_001282224.1:c.3079T>C (ATP7A)	NP_001269153.1:p.Leu1027=
NR_104109.1:n.523T>C (ATP7A)
NM_000052.7:c.3313T>C (ATP7A) MANE Select	NP_000043.4:p.Leu1105=
NR_104109.2:n.486T>C (ATP7A)
NM_001282224.2:c.3079T>C (ATP7A)	NP_001269153.1:p.Leu1027=