Canonical Allele Identifier: CA256181

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 12001
• ClinVar RCV Id: RCV000012781
• dbSNP Id: rs104894566
• gnomAD v4: 17-42901105-T-C
• MyVariant Identifiers: chr17:g.41053122T>C (hg19) ; chr17:g.42901105T>C (hg38)
• PubMed: PMID:8733042 ; PMID:10738525 ; PMID:10874313 ; PMID:11739393 ; PMID:11916325 ; PMID:12373566 ; PMID:16435186 ; PMID:23352793

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901105T>C , CM000679.2:g.42901105T>C	GRCh38
NC_000017.10:g.41053122T>C , CM000679.1:g.41053122T>C	GRCh37
NC_000017.9:g.38306648T>C	NCBI36
NG_011808.1:g.5308T>C , LRG_147:g.5308T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.229T>C MANE Select	ENSP00000253801.1:p.Trp77Arg
ENST00000253801.6:c.229T>C	ENSP00000253801.1:p.Trp77Arg
ENST00000585489.1:c.229T>C	ENSP00000466202.1:p.Trp77Arg
ENST00000588481.1:n.294T>C
ENST00000592383.5:c.229T>C	ENSP00000465958.1:p.Trp77Arg
NM_000151.3:c.229T>C	NP_000142.2:p.Trp77Arg
NM_001270397.1:c.229T>C	NP_001257326.1:p.Trp77Arg
NM_000151.4:c.229T>C MANE Select	NP_000142.2:p.Trp77Arg
NM_001270397.2:c.229T>C	NP_001257326.1:p.Trp77Arg