Canonical Allele Identifier: CA399657754
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2418026
ClinVar RCV Id: RCV003118135
dbSNP Id: rs1444458077

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911388G>A , CM000679.2:g.42911388G>A GRCh38
NC_000017.10:g.41063405G>A , CM000679.1:g.41063405G>A GRCh37
NC_000017.9:g.38316931G>A NCBI36
NG_011808.1:g.15591G>A , LRG_147:g.15591G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1036G>A MANE Select ENSP00000253801.1:p.Ala346Thr
ENST00000253801.6:c.1036G>A ENSP00000253801.1:p.Ala346Thr
ENST00000585489.1:c.*428G>A ENSP00000466202.1:n.*428G>A
NM_000151.3:c.1036G>A NP_000142.2:p.Ala346Thr
NM_001270397.1:c.*428G>A NP_001257326.1:n.*428G>A
NM_000151.4:c.1036G>A MANE Select NP_000142.2:p.Ala346Thr
NM_001270397.2:c.*428G>A NP_001257326.1:n.*428G>A