Canonical Allele Identifier: CA8587595

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 1682511
• ClinVar RCV Id: RCV002237500
• dbSNP Id: rs777552825
• ExAC: 17:41061373 G / A
• gnomAD v2: 17-41061373-G-A
• gnomAD v4: 17-42909356-G-A
• MyVariant Identifiers: chr17:g.41061373G>A (hg19) ; chr17:g.42909356G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909356G>A , CM000679.2:g.42909356G>A	GRCh38
NC_000017.10:g.41061373G>A , CM000679.1:g.41061373G>A	GRCh37
NC_000017.9:g.38314899G>A	NCBI36
NG_011808.1:g.13559G>A , LRG_147:g.13559G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.500G>A MANE Select	ENSP00000253801.1:p.Cys167Tyr
ENST00000253801.6:c.500G>A	ENSP00000253801.1:p.Cys167Tyr
ENST00000585489.1:c.447-1559G>A	ENSP00000466202.1:n.447-1559G>A
ENST00000592383.5:c.423G>A	ENSP00000465958.1:p.Leu141=
NM_000151.3:c.500G>A	NP_000142.2:p.Cys167Tyr
NM_001270397.1:c.423G>A	NP_001257326.1:p.Leu141=
NM_000151.4:c.500G>A MANE Select	NP_000142.2:p.Cys167Tyr
NM_001270397.2:c.423G>A	NP_001257326.1:p.Leu141=