Canonical Allele Identifier: CA8587688

Gene: G6PC1

Linked Data

• dbSNP Id: rs778587726
• ExAC: 17:41063343 T / C
• gnomAD v2: 17-41063343-T-C
• gnomAD v4: 17-42911326-T-C
• MyVariant Identifiers: chr17:g.41063343T>C (hg19) ; chr17:g.42911326T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911326T>C , CM000679.2:g.42911326T>C	GRCh38
NC_000017.10:g.41063343T>C , CM000679.1:g.41063343T>C	GRCh37
NC_000017.9:g.38316869T>C	NCBI36
NG_011808.1:g.15529T>C , LRG_147:g.15529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.974T>C MANE Select	ENSP00000253801.1:p.Leu325Ser
ENST00000253801.6:c.974T>C	ENSP00000253801.1:p.Leu325Ser
ENST00000585489.1:c.*366T>C	ENSP00000466202.1:n.*366T>C
ENST00000592383.5:c.*366T>C	ENSP00000465958.1:n.*366T>C
NM_000151.3:c.974T>C	NP_000142.2:p.Leu325Ser
NM_001270397.1:c.*366T>C	NP_001257326.1:n.*366T>C
NM_000151.4:c.974T>C MANE Select	NP_000142.2:p.Leu325Ser
NM_001270397.2:c.*366T>C	NP_001257326.1:n.*366T>C