Canonical Allele Identifier: CA273945

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 188777
• ClinVar RCV Id: RCV000169104 ; RCV000726277
• dbSNP Id: rs780226142
• ExAC: 17:41063338 C / A
• gnomAD v4: 17-42911321-C-A
• MyVariant Identifiers: chr17:g.41063338C>A (hg19) ; chr17:g.42911321C>A (hg38)
• PubMed: PMID:23046672

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911321C>A , CM000679.2:g.42911321C>A	GRCh38
NC_000017.10:g.41063338C>A , CM000679.1:g.41063338C>A	GRCh37
NC_000017.9:g.38316864C>A	NCBI36
NG_011808.1:g.15524C>A , LRG_147:g.15524C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.969C>A MANE Select	ENSP00000253801.1:p.Tyr323Ter
ENST00000253801.6:c.969C>A	ENSP00000253801.1:p.Tyr323Ter
ENST00000585489.1:c.*361C>A	ENSP00000466202.1:n.*361C>A
ENST00000592383.5:c.*361C>A	ENSP00000465958.1:n.*361C>A
NM_000151.3:c.969C>A	NP_000142.2:p.Tyr323Ter
NM_001270397.1:c.*361C>A	NP_001257326.1:n.*361C>A
NM_000151.4:c.969C>A MANE Select	NP_000142.2:p.Tyr323Ter
NM_001270397.2:c.*361C>A	NP_001257326.1:n.*361C>A