Canonical Allele Identifier: CA413596777

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2941755
• ClinVar RCV Id: RCV003802777
• MyVariant Identifiers: chrX:g.77264608A>T (hg19) ; chrX:g.78009111A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009111A>T , CM000685.2:g.78009111A>T	GRCh38
NC_000023.10:g.77264608A>T , CM000685.1:g.77264608A>T	GRCh37
NC_000023.9:g.77151264A>T	NCBI36
NG_013224.2:g.103415A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.1747A>T (ATP7A)	ENSP00000343026.6:p.Met583Leu
ENST00000682742.2:n.1879A>T (ATP7A)
ENST00000685264.1:c.1717A>T (ATP7A)	ENSP00000510136.1:p.Met573Leu
ENST00000685434.1:n.1751A>T (ATP7A)
ENST00000686033.1:c.1717A>T (ATP7A)	ENSP00000510693.1:p.Met573Leu
ENST00000686133.1:c.1717A>T (ATP7A)	ENSP00000509233.1:p.Met573Leu
ENST00000686416.1:n.2071A>T (ATP7A)
ENST00000686480.1:c.1717A>T (ATP7A)	ENSP00000508978.1:p.Met573Leu
ENST00000686515.1:n.1857A>T (ATP7A)
ENST00000686543.1:c.1717A>T (ATP7A)	ENSP00000509477.1:p.Met573Leu
ENST00000686688.1:c.1717A>T (ATP7A)	ENSP00000509416.1:p.Met573Leu
ENST00000686999.1:n.2028A>T (ATP7A)
ENST00000687086.1:c.1717A>T (ATP7A)	ENSP00000509566.1:p.Met573Leu
ENST00000687628.1:n.1818A>T (ATP7A)
ENST00000688746.1:n.1869A>T (ATP7A)
ENST00000689530.1:c.1717A>T (ATP7A)	ENSP00000509707.1:p.Met573Leu
ENST00000689541.1:n.2026A>T (ATP7A)
ENST00000689649.1:c.1717A>T (ATP7A)	ENSP00000509277.1:p.Met573Leu
ENST00000689767.1:c.1810A>T (ATP7A)	ENSP00000509406.1:p.Met604Leu
ENST00000689872.1:c.1717A>T (ATP7A)	ENSP00000509373.1:p.Met573Leu
ENST00000692110.1:c.1633A>T (ATP7A)	ENSP00000509366.1:p.Met545Leu
ENST00000692908.1:c.1717A>T (ATP7A)	ENSP00000508627.1:p.Met573Leu
ENST00000693387.1:c.*1646A>T (ATP7A)	ENSP00000508732.1:n.*1646A>T
ENST00000693398.1:c.1717A>T (ATP7A)	ENSP00000510089.1:p.Met573Leu
ENST00000341514.11:c.1717A>T (ATP7A) MANE Select	ENSP00000345728.6:p.Met573Leu
ENST00000644362.1:c.-20+98276A>T (PGK1)	ENSP00000496140.1:n.-20+98276A>T
ENST00000645094.1:c.*1631A>T (ATP7A)	ENSP00000493605.1:n.*1631A>T
ENST00000341514.10:c.1717A>T (ATP7A)	ENSP00000345728.6:p.Met573Leu
ENST00000343533.9:c.1717A>T (ATP7A)	ENSP00000343026.5:p.Met573Leu
ENST00000350425.5:c.*890A>T (ATP7A)	ENSP00000343678.5:n.*890A>T
NM_000052.6:c.1717A>T (ATP7A)	NP_000043.4:p.Met573Leu
NM_001282224.1:c.1717A>T (ATP7A)	NP_001269153.1:p.Met573Leu
NR_104109.1:n.322-22289A>T (ATP7A)
NM_000052.7:c.1717A>T (ATP7A) MANE Select	NP_000043.4:p.Met573Leu
NR_104109.2:n.285-22289A>T (ATP7A)
NM_001282224.2:c.1717A>T (ATP7A)	NP_001269153.1:p.Met573Leu