Canonical Allele Identifier: CA413597968

Gene: ATP7A PGK1

Linked Data

• COSMIC: COSM6119753 ; COSM6119754
• MyVariant Identifiers: chrX:g.77266706G>T (hg19) ; chrX:g.78011209G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011209G>T , CM000685.2:g.78011209G>T	GRCh38
NC_000023.10:g.77266706G>T , CM000685.1:g.77266706G>T	GRCh37
NC_000023.9:g.77153362G>T	NCBI36
NG_013224.2:g.105513G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1933G>T (ATP7A)	ENSP00000343026.6:p.Asp645Tyr
ENST00000682475.1:n.358G>T (ATP7A)
ENST00000685264.1:c.1903G>T (ATP7A)	ENSP00000510136.1:p.Asp635Tyr
ENST00000686033.1:c.1903G>T (ATP7A)	ENSP00000510693.1:p.Asp635Tyr
ENST00000686133.1:c.1903G>T (ATP7A)	ENSP00000509233.1:p.Asp635Tyr
ENST00000686255.1:n.738G>T (ATP7A)
ENST00000686480.1:c.1903G>T (ATP7A)	ENSP00000508978.1:p.Asp635Tyr
ENST00000686515.1:n.2043G>T (ATP7A)
ENST00000686543.1:c.1903G>T (ATP7A)	ENSP00000509477.1:p.Asp635Tyr
ENST00000686688.1:c.1903G>T (ATP7A)	ENSP00000509416.1:p.Asp635Tyr
ENST00000686999.1:n.2214G>T (ATP7A)
ENST00000687086.1:c.1903G>T (ATP7A)	ENSP00000509566.1:p.Asp635Tyr
ENST00000687628.1:n.3916G>T (ATP7A)
ENST00000688746.1:n.2055G>T (ATP7A)
ENST00000689530.1:c.1903G>T (ATP7A)	ENSP00000509707.1:p.Asp635Tyr
ENST00000689649.1:c.1903G>T (ATP7A)	ENSP00000509277.1:p.Asp635Tyr
ENST00000689767.1:c.1996G>T (ATP7A)	ENSP00000509406.1:p.Asp666Tyr
ENST00000689872.1:c.1870-240G>T (ATP7A)	ENSP00000509373.1:n.1870-240G>T
ENST00000692110.1:c.1819G>T (ATP7A)	ENSP00000509366.1:p.Asp607Tyr
ENST00000692908.1:c.1903G>T (ATP7A)	ENSP00000508627.1:p.Asp635Tyr
ENST00000693398.1:c.1903G>T (ATP7A)	ENSP00000510089.1:p.Asp635Tyr
ENST00000341514.11:c.1903G>T (ATP7A) MANE Select	ENSP00000345728.6:p.Asp635Tyr
ENST00000644362.1:c.-19-98658G>T (PGK1)	ENSP00000496140.1:n.-19-98658G>T
ENST00000645094.1:c.*1817G>T (ATP7A)	ENSP00000493605.1:n.*1817G>T
ENST00000341514.10:c.1903G>T (ATP7A)	ENSP00000345728.6:p.Asp635Tyr
ENST00000343533.9:c.1903G>T (ATP7A)	ENSP00000343026.5:p.Asp635Tyr
ENST00000350425.5:c.*1076G>T (ATP7A)	ENSP00000343678.5:n.*1076G>T
NM_000052.6:c.1903G>T (ATP7A)	NP_000043.4:p.Asp635Tyr
NM_001282224.1:c.1903G>T (ATP7A)	NP_001269153.1:p.Asp635Tyr
NR_104109.1:n.322-20191G>T (ATP7A)
NM_000052.7:c.1903G>T (ATP7A) MANE Select	NP_000043.4:p.Asp635Tyr
NR_104109.2:n.285-20191G>T (ATP7A)
NM_001282224.2:c.1903G>T (ATP7A)	NP_001269153.1:p.Asp635Tyr