Canonical Allele Identifier: CA500229463
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 799666
ClinVar RCV Id: RCV000983279
dbSNP Id: rs1422424986
gnomAD v4: 17-42911105-C-A
MyVariant Identifiers: chr17:g.41063122C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911105C>A , CM000679.2:g.42911105C>A GRCh38
NC_000017.10:g.41063122C>A , CM000679.1:g.41063122C>A GRCh37
NC_000017.9:g.38316648C>A NCBI36
NG_011808.1:g.15308C>A , LRG_147:g.15308C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.753C>A MANE Select ENSP00000253801.1:p.Val251=
ENST00000253801.6:c.753C>A ENSP00000253801.1:p.Val251=
ENST00000585489.1:c.*145C>A ENSP00000466202.1:n.*145C>A
ENST00000592383.5:c.*145C>A ENSP00000465958.1:n.*145C>A
NM_000151.3:c.753C>A NP_000142.2:p.Val251=
NM_001270397.1:c.*145C>A NP_001257326.1:n.*145C>A
NM_000151.4:c.753C>A MANE Select NP_000142.2:p.Val251=
NM_001270397.2:c.*145C>A NP_001257326.1:n.*145C>A
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