Canonical Allele Identifier: CA500229387

Gene: G6PC1

Linked Data

• MyVariant Identifiers: chr17:g.41053106C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901089C>G , CM000679.2:g.42901089C>G	GRCh38
NC_000017.10:g.41053106C>G , CM000679.1:g.41053106C>G	GRCh37
NC_000017.9:g.38306632C>G	NCBI36
NG_011808.1:g.5292C>G , LRG_147:g.5292C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.213C>G MANE Select	ENSP00000253801.1:p.Leu71=
ENST00000253801.6:c.213C>G	ENSP00000253801.1:p.Leu71=
ENST00000585489.1:c.213C>G	ENSP00000466202.1:p.Leu71=
ENST00000588481.1:n.278C>G
ENST00000592383.5:c.213C>G	ENSP00000465958.1:p.Leu71=
NM_000151.3:c.213C>G	NP_000142.2:p.Leu71=
NM_001270397.1:c.213C>G	NP_001257326.1:p.Leu71=
NM_000151.4:c.213C>G MANE Select	NP_000142.2:p.Leu71=
NM_001270397.2:c.213C>G	NP_001257326.1:p.Leu71=