Canonical Allele Identifier: CA10459405

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 968940
• ClinVar RCV Id: RCV001244182
• dbSNP Id: rs782066060
• ExAC: X:77289112 A / T
• gnomAD v2: X-77289112-A-T
• gnomAD v3: X-78033614-A-T
• gnomAD v4: X-78033614-A-T
• MyVariant Identifiers: chrX:g.77289112A>T (hg19) ; chrX:g.78033614A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033614A>T , CM000685.2:g.78033614A>T	GRCh38
NC_000023.10:g.77289112A>T , CM000685.1:g.77289112A>T	GRCh37
NC_000023.9:g.77175768A>T	NCBI36
NG_013224.2:g.127918A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3334A>T (ATP7A)	ENSP00000343026.6:p.Thr1112Ser
ENST00000682475.1:n.1721A>T (ATP7A)
ENST00000685033.1:c.568A>T (ATP7A)	ENSP00000509269.1:p.Thr190Ser
ENST00000685264.1:c.3304A>T (ATP7A)	ENSP00000510136.1:p.Thr1102Ser
ENST00000686033.1:c.3109A>T (ATP7A)	ENSP00000510693.1:p.Thr1037Ser
ENST00000686133.1:c.3304A>T (ATP7A)	ENSP00000509233.1:p.Thr1102Ser
ENST00000686255.1:n.2335A>T (ATP7A)
ENST00000686543.1:c.3070A>T (ATP7A)	ENSP00000509477.1:p.Thr1024Ser
ENST00000687086.1:c.3304A>T (ATP7A)	ENSP00000509566.1:p.Thr1102Ser
ENST00000689514.1:n.1346A>T (ATP7A)
ENST00000689767.1:c.3397A>T (ATP7A)	ENSP00000509406.1:p.Thr1133Ser
ENST00000692908.1:c.3070A>T (ATP7A)	ENSP00000508627.1:p.Thr1024Ser
ENST00000341514.11:c.3304A>T (ATP7A) MANE Select	ENSP00000345728.6:p.Thr1102Ser
ENST00000644362.1:c.-19-76253A>T (PGK1)	ENSP00000496140.1:n.-19-76253A>T
ENST00000645094.1:c.*3218A>T (ATP7A)	ENSP00000493605.1:n.*3218A>T
ENST00000341514.10:c.3304A>T (ATP7A)	ENSP00000345728.6:p.Thr1102Ser
ENST00000343533.9:c.3070A>T (ATP7A)	ENSP00000343026.5:p.Thr1024Ser
ENST00000350425.5:c.*2477A>T (ATP7A)	ENSP00000343678.5:n.*2477A>T
NM_000052.6:c.3304A>T (ATP7A)	NP_000043.4:p.Thr1102Ser
NM_001282224.1:c.3070A>T (ATP7A)	NP_001269153.1:p.Thr1024Ser
NR_104109.1:n.514A>T (ATP7A)
NM_000052.7:c.3304A>T (ATP7A) MANE Select	NP_000043.4:p.Thr1102Ser
NR_104109.2:n.477A>T (ATP7A)
NM_001282224.2:c.3070A>T (ATP7A)	NP_001269153.1:p.Thr1024Ser