Canonical Allele Identifier: CA399656891

Gene: G6PC1

Linked Data

• MyVariant Identifiers: chr17:g.41063267G>T (hg19) ; chr17:g.42911250G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911250G>T , CM000679.2:g.42911250G>T	GRCh38
NC_000017.10:g.41063267G>T , CM000679.1:g.41063267G>T	GRCh37
NC_000017.9:g.38316793G>T	NCBI36
NG_011808.1:g.15453G>T , LRG_147:g.15453G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.898G>T MANE Select	ENSP00000253801.1:p.Val300Leu
ENST00000253801.6:c.898G>T	ENSP00000253801.1:p.Val300Leu
ENST00000585489.1:c.*290G>T	ENSP00000466202.1:n.*290G>T
ENST00000592383.5:c.*290G>T	ENSP00000465958.1:n.*290G>T
NM_000151.3:c.898G>T	NP_000142.2:p.Val300Leu
NM_001270397.1:c.*290G>T	NP_001257326.1:n.*290G>T
NM_000151.4:c.898G>T MANE Select	NP_000142.2:p.Val300Leu
NM_001270397.2:c.*290G>T	NP_001257326.1:n.*290G>T