Canonical Allele Identifier: CA277169

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 210468
• ClinVar RCV Id: RCV000193560 ; RCV001852548
• dbSNP Id: rs797045391
• MyVariant Identifiers: chrX:g.77298287G>T (hg19) ; chrX:g.78042789G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78042789G>T , CM000685.2:g.78042789G>T	GRCh38
NC_000023.10:g.77298287G>T , CM000685.1:g.77298287G>T	GRCh37
NC_000023.9:g.77184943G>T	NCBI36
NG_013224.2:g.137093G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.4035+1G>T (ATP7A)	ENSP00000343026.6:n.4035+1G>T
ENST00000682475.1:n.2422+1G>T (ATP7A)
ENST00000685033.1:c.1269+1G>T (ATP7A)	ENSP00000509269.1:n.1269+1G>T
ENST00000685264.1:c.4005+1G>T (ATP7A)	ENSP00000510136.1:n.4005+1G>T
ENST00000686033.1:c.3810+1G>T (ATP7A)	ENSP00000510693.1:n.3810+1G>T
ENST00000686133.1:c.4005+1G>T (ATP7A)	ENSP00000509233.1:n.4005+1G>T
ENST00000686255.1:n.3036+1G>T (ATP7A)
ENST00000686543.1:c.3771+1G>T (ATP7A)	ENSP00000509477.1:n.3771+1G>T
ENST00000687086.1:c.4005+1G>T (ATP7A)	ENSP00000509566.1:n.4005+1G>T
ENST00000689514.1:n.2047+1G>T (ATP7A)
ENST00000689767.1:c.4098+1G>T (ATP7A)	ENSP00000509406.1:n.4098+1G>T
ENST00000692908.1:c.3771+1G>T (ATP7A)	ENSP00000508627.1:n.3771+1G>T
ENST00000341514.11:c.4005+1G>T (ATP7A) MANE Select	ENSP00000345728.6:n.4005+1G>T
ENST00000644362.1:c.-19-67078G>T (PGK1)	ENSP00000496140.1:n.-19-67078G>T
ENST00000341514.10:c.4005+1G>T (ATP7A)	ENSP00000345728.6:n.4005+1G>T
ENST00000343533.9:c.3771+1G>T (ATP7A)	ENSP00000343026.5:n.3771+1G>T
ENST00000350425.5:c.*3178+1G>T (ATP7A)	ENSP00000343678.5:n.*3178+1G>T
NM_000052.6:c.4005+1G>T (ATP7A)	NP_000043.4:n.4005+1G>T
NM_001282224.1:c.3771+1G>T (ATP7A)	NP_001269153.1:n.3771+1G>T
NR_104109.1:n.1215+1G>T (ATP7A)
NM_000052.7:c.4005+1G>T (ATP7A) MANE Select	NP_000043.4:n.4005+1G>T
NR_104109.2:n.1178+1G>T (ATP7A)
NM_001282224.2:c.3771+1G>T (ATP7A)	NP_001269153.1:n.3771+1G>T