Canonical Allele Identifier: CA8587594

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 2852708
• ClinVar RCV Id: RCV003625876
• dbSNP Id: rs771720935
• ExAC: 17:41061344 G / A
• gnomAD v2: 17-41061344-G-A
• gnomAD v3: 17-42909327-G-A
• gnomAD v4: 17-42909327-G-A
• MyVariant Identifiers: chr17:g.41061344G>A (hg19) ; chr17:g.42909327G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909327G>A , CM000679.2:g.42909327G>A	GRCh38
NC_000017.10:g.41061344G>A , CM000679.1:g.41061344G>A	GRCh37
NC_000017.9:g.38314870G>A	NCBI36
NG_011808.1:g.13530G>A , LRG_147:g.13530G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.471G>A MANE Select	ENSP00000253801.1:p.Leu157=
ENST00000253801.6:c.471G>A	ENSP00000253801.1:p.Leu157=
ENST00000585489.1:c.447-1588G>A	ENSP00000466202.1:n.447-1588G>A
ENST00000592383.5:c.394G>A	ENSP00000465958.1:p.Gly132Arg
NM_000151.3:c.471G>A	NP_000142.2:p.Leu157=
NM_001270397.1:c.394G>A	NP_001257326.1:p.Gly132Arg
NM_000151.4:c.471G>A MANE Select	NP_000142.2:p.Leu157=
NM_001270397.2:c.394G>A	NP_001257326.1:p.Gly132Arg