Canonical Allele Identifier: CA399654945

Gene: G6PC1

Linked Data

• MyVariant Identifiers: chr17:g.41061390C>A (hg19) ; chr17:g.42909373C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909373C>A , CM000679.2:g.42909373C>A	GRCh38
NC_000017.10:g.41061390C>A , CM000679.1:g.41061390C>A	GRCh37
NC_000017.9:g.38314916C>A	NCBI36
NG_011808.1:g.13576C>A , LRG_147:g.13576C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.517C>A MANE Select	ENSP00000253801.1:p.Leu173Ile
ENST00000253801.6:c.517C>A	ENSP00000253801.1:p.Leu173Ile
ENST00000585489.1:c.447-1542C>A	ENSP00000466202.1:n.447-1542C>A
ENST00000592383.5:c.440C>A	ENSP00000465958.1:p.Pro147His
NM_000151.3:c.517C>A	NP_000142.2:p.Leu173Ile
NM_001270397.1:c.440C>A	NP_001257326.1:p.Pro147His
NM_000151.4:c.517C>A MANE Select	NP_000142.2:p.Leu173Ile
NM_001270397.2:c.440C>A	NP_001257326.1:p.Pro147His