Canonical Allele Identifier: CA8587666

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 1142301
• ClinVar RCV Id: RCV001480048 ; RCV004037201
• dbSNP Id: rs368041878
• ExAC: 17:41063239 G / A
• gnomAD v2: 17-41063239-G-A
• gnomAD v3: 17-42911222-G-A
• gnomAD v4: 17-42911222-G-A
• MyVariant Identifiers: chr17:g.41063239G>A (hg19) ; chr17:g.42911222G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911222G>A , CM000679.2:g.42911222G>A	GRCh38
NC_000017.10:g.41063239G>A , CM000679.1:g.41063239G>A	GRCh37
NC_000017.9:g.38316765G>A	NCBI36
NG_011808.1:g.15425G>A , LRG_147:g.15425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.870G>A MANE Select	ENSP00000253801.1:p.Lys290=
ENST00000253801.6:c.870G>A	ENSP00000253801.1:p.Lys290=
ENST00000585489.1:c.*262G>A	ENSP00000466202.1:n.*262G>A
ENST00000592383.5:c.*262G>A	ENSP00000465958.1:n.*262G>A
NM_000151.3:c.870G>A	NP_000142.2:p.Lys290=
NM_001270397.1:c.*262G>A	NP_001257326.1:n.*262G>A
NM_000151.4:c.870G>A MANE Select	NP_000142.2:p.Lys290=
NM_001270397.2:c.*262G>A	NP_001257326.1:n.*262G>A