Canonical Allele Identifier: CA500229784

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 2021453
• ClinVar RCV Id: RCV002862665
• gnomAD v4: 17-42911243-C-T
• MyVariant Identifiers: chr17:g.41063260C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911243C>T , CM000679.2:g.42911243C>T	GRCh38
NC_000017.10:g.41063260C>T , CM000679.1:g.41063260C>T	GRCh37
NC_000017.9:g.38316786C>T	NCBI36
NG_011808.1:g.15446C>T , LRG_147:g.15446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.891C>T MANE Select	ENSP00000253801.1:p.Ser297=
ENST00000253801.6:c.891C>T	ENSP00000253801.1:p.Ser297=
ENST00000585489.1:c.*283C>T	ENSP00000466202.1:n.*283C>T
ENST00000592383.5:c.*283C>T	ENSP00000465958.1:n.*283C>T
NM_000151.3:c.891C>T	NP_000142.2:p.Ser297=
NM_001270397.1:c.*283C>T	NP_001257326.1:n.*283C>T
NM_000151.4:c.891C>T MANE Select	NP_000142.2:p.Ser297=
NM_001270397.2:c.*283C>T	NP_001257326.1:n.*283C>T