Canonical Allele Identifier: CA8587693

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 323364
• ClinVar RCV Id: RCV000372616
• dbSNP Id: rs369238258
• ExAC: 17:41063362 G / C
• gnomAD v2: 17-41063362-G-C
• gnomAD v3: 17-42911345-G-C
• gnomAD v4: 17-42911345-G-C
• MyVariant Identifiers: chr17:g.41063362G>C (hg19) ; chr17:g.42911345G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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