Canonical Allele Identifier: CA500229902

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 1682534
• ClinVar RCV Id: RCV002237515
• dbSNP Id: rs1399520060
• MyVariant Identifiers: chr17:g.41063335C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911318C>T , CM000679.2:g.42911318C>T	GRCh38
NC_000017.10:g.41063335C>T , CM000679.1:g.41063335C>T	GRCh37
NC_000017.9:g.38316861C>T	NCBI36
NG_011808.1:g.15521C>T , LRG_147:g.15521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.966C>T MANE Select	ENSP00000253801.1:p.Phe322=
ENST00000253801.6:c.966C>T	ENSP00000253801.1:p.Phe322=
ENST00000585489.1:c.*358C>T	ENSP00000466202.1:n.*358C>T
ENST00000592383.5:c.*358C>T	ENSP00000465958.1:n.*358C>T
NM_000151.3:c.966C>T	NP_000142.2:p.Phe322=
NM_001270397.1:c.*358C>T	NP_001257326.1:n.*358C>T
NM_000151.4:c.966C>T MANE Select	NP_000142.2:p.Phe322=
NM_001270397.2:c.*358C>T	NP_001257326.1:n.*358C>T