Canonical Allele Identifier: CA8587692

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 477019
• ClinVar RCV Id: RCV000556983 ; RCV003952893
• dbSNP Id: rs369238258
• ExAC: 17:41063362 G / A
• gnomAD v2: 17-41063362-G-A
• gnomAD v3: 17-42911345-G-A
• gnomAD v4: 17-42911345-G-A
• MyVariant Identifiers: chr17:g.41063362G>A (hg19) ; chr17:g.42911345G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911345G>A , CM000679.2:g.42911345G>A	GRCh38
NC_000017.10:g.41063362G>A , CM000679.1:g.41063362G>A	GRCh37
NC_000017.9:g.38316888G>A	NCBI36
NG_011808.1:g.15548G>A , LRG_147:g.15548G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.993G>A MANE Select	ENSP00000253801.1:p.Ala331=
ENST00000253801.6:c.993G>A	ENSP00000253801.1:p.Ala331=
ENST00000585489.1:c.*385G>A	ENSP00000466202.1:n.*385G>A
NM_000151.3:c.993G>A	NP_000142.2:p.Ala331=
NM_001270397.1:c.*385G>A	NP_001257326.1:n.*385G>A
NM_000151.4:c.993G>A MANE Select	NP_000142.2:p.Ala331=
NM_001270397.2:c.*385G>A	NP_001257326.1:n.*385G>A