Canonical Allele Identifier: CA500229866

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 1682532
• ClinVar RCV Id: RCV002237513
• dbSNP Id: rs2056094359
• MyVariant Identifiers: chr17:g.41063314A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911297A>G , CM000679.2:g.42911297A>G	GRCh38
NC_000017.10:g.41063314A>G , CM000679.1:g.41063314A>G	GRCh37
NC_000017.9:g.38316840A>G	NCBI36
NG_011808.1:g.15500A>G , LRG_147:g.15500A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.945A>G MANE Select	ENSP00000253801.1:p.Pro315=
ENST00000253801.6:c.945A>G	ENSP00000253801.1:p.Pro315=
ENST00000585489.1:c.*337A>G	ENSP00000466202.1:n.*337A>G
ENST00000592383.5:c.*337A>G	ENSP00000465958.1:n.*337A>G
NM_000151.3:c.945A>G	NP_000142.2:p.Pro315=
NM_001270397.1:c.*337A>G	NP_001257326.1:n.*337A>G
NM_000151.4:c.945A>G MANE Select	NP_000142.2:p.Pro315=
NM_001270397.2:c.*337A>G	NP_001257326.1:n.*337A>G