Canonical Allele Identifier: CA8587530

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 2069743
• ClinVar RCV Id: RCV002966599 ; RCV004068213
• dbSNP Id: rs771864998
• ExAC: 17:41055986 A / G
• gnomAD v2: 17-41055986-A-G
• gnomAD v4: 17-42903969-A-G
• MyVariant Identifiers: chr17:g.41055986A>G (hg19) ; chr17:g.42903969A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42903969A>G , CM000679.2:g.42903969A>G	GRCh38
NC_000017.10:g.41055986A>G , CM000679.1:g.41055986A>G	GRCh37
NC_000017.9:g.38309512A>G	NCBI36
NG_011808.1:g.8172A>G , LRG_147:g.8172A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.269A>G MANE Select	ENSP00000253801.1:p.Asp90Gly
ENST00000253801.6:c.269A>G	ENSP00000253801.1:p.Asp90Gly
ENST00000585489.1:c.269A>G	ENSP00000466202.1:p.Asp90Gly
ENST00000588481.1:n.334A>G
ENST00000592383.5:c.269A>G	ENSP00000465958.1:p.Asp90Gly
NM_000151.3:c.269A>G	NP_000142.2:p.Asp90Gly
NM_001270397.1:c.269A>G	NP_001257326.1:p.Asp90Gly
NM_000151.4:c.269A>G MANE Select	NP_000142.2:p.Asp90Gly
NM_001270397.2:c.269A>G	NP_001257326.1:p.Asp90Gly