Canonical Allele Identifier: CA413605810

Gene: ATP7A PGK1

Linked Data

• COSMIC: COSM6119741 ; COSM6119742
• MyVariant Identifiers: chrX:g.77301004G>A (hg19) ; chrX:g.78045507G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78045507G>A , CM000685.2:g.78045507G>A	GRCh38
NC_000023.10:g.77301004G>A , CM000685.1:g.77301004G>A	GRCh37
NC_000023.9:g.77187660G>A	NCBI36
NG_013224.2:g.139811G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.4191G>A (ATP7A)	ENSP00000343026.6:p.Trp1397Ter
ENST00000682475.1:n.2578G>A (ATP7A)
ENST00000685033.1:c.1425G>A (ATP7A)	ENSP00000509269.1:p.Trp475Ter
ENST00000685264.1:c.4161G>A (ATP7A)	ENSP00000510136.1:p.Trp1387Ter
ENST00000686033.1:c.3966G>A (ATP7A)	ENSP00000510693.1:p.Trp1322Ter
ENST00000686133.1:c.4161G>A (ATP7A)	ENSP00000509233.1:p.Trp1387Ter
ENST00000686255.1:n.3192G>A (ATP7A)
ENST00000686543.1:c.3927G>A (ATP7A)	ENSP00000509477.1:p.Trp1309Ter
ENST00000687086.1:c.4161G>A (ATP7A)	ENSP00000509566.1:p.Trp1387Ter
ENST00000689083.1:n.1456G>A (ATP7A)
ENST00000689767.1:c.4254G>A (ATP7A)	ENSP00000509406.1:p.Trp1418Ter
ENST00000692908.1:c.3927G>A (ATP7A)	ENSP00000508627.1:p.Trp1309Ter
ENST00000341514.11:c.4161G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Trp1387Ter
ENST00000644362.1:c.-19-64360G>A (PGK1)	ENSP00000496140.1:n.-19-64360G>A
ENST00000341514.10:c.4161G>A (ATP7A)	ENSP00000345728.6:p.Trp1387Ter
ENST00000343533.9:c.3927G>A (ATP7A)	ENSP00000343026.5:p.Trp1309Ter
ENST00000350425.5:c.*3334G>A (ATP7A)	ENSP00000343678.5:n.*3334G>A
NM_000052.6:c.4161G>A (ATP7A)	NP_000043.4:p.Trp1387Ter
NM_001282224.1:c.3927G>A (ATP7A)	NP_001269153.1:p.Trp1309Ter
NR_104109.1:n.1371G>A (ATP7A)
NM_000052.7:c.4161G>A (ATP7A) MANE Select	NP_000043.4:p.Trp1387Ter
NR_104109.2:n.1334G>A (ATP7A)
NM_001282224.2:c.3927G>A (ATP7A)	NP_001269153.1:p.Trp1309Ter