Canonical Allele Identifier: CA399655332

Gene: G6PC1

Linked Data

• MyVariant Identifiers: chr17:g.41062933C>G (hg19) ; chr17:g.42910916C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42910916C>G , CM000679.2:g.42910916C>G	GRCh38
NC_000017.10:g.41062933C>G , CM000679.1:g.41062933C>G	GRCh37
NC_000017.9:g.38316459C>G	NCBI36
NG_011808.1:g.15119C>G , LRG_147:g.15119C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.564C>G MANE Select	ENSP00000253801.1:p.Gly188=
ENST00000253801.6:c.564C>G	ENSP00000253801.1:p.Gly188=
ENST00000585489.1:c.448C>G	ENSP00000466202.1:p.His150Asp
ENST00000592383.5:c.487C>G	ENSP00000465958.1:p.His163Asp
NM_000151.3:c.564C>G	NP_000142.2:p.Gly188=
NM_001270397.1:c.487C>G	NP_001257326.1:p.His163Asp
NM_000151.4:c.564C>G MANE Select	NP_000142.2:p.Gly188=
NM_001270397.2:c.487C>G	NP_001257326.1:p.His163Asp