Canonical Allele Identifier: CA399654741

Gene: G6PC1

Linked Data

• MyVariant Identifiers: chr17:g.41061341G>C (hg19) ; chr17:g.42909324G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909324G>C , CM000679.2:g.42909324G>C	GRCh38
NC_000017.10:g.41061341G>C , CM000679.1:g.41061341G>C	GRCh37
NC_000017.9:g.38314867G>C	NCBI36
NG_011808.1:g.13527G>C , LRG_147:g.13527G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.468G>C MANE Select	ENSP00000253801.1:p.Trp156Cys
ENST00000253801.6:c.468G>C	ENSP00000253801.1:p.Trp156Cys
ENST00000585489.1:c.447-1591G>C	ENSP00000466202.1:n.447-1591G>C
ENST00000592383.5:c.391G>C	ENSP00000465958.1:p.Val131Leu
NM_000151.3:c.468G>C	NP_000142.2:p.Trp156Cys
NM_001270397.1:c.391G>C	NP_001257326.1:p.Val131Leu
NM_000151.4:c.468G>C MANE Select	NP_000142.2:p.Trp156Cys
NM_001270397.2:c.391G>C	NP_001257326.1:p.Val131Leu