Canonical Allele Identifier: CA341567
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21061
ClinVar RCV Id: RCV000239641
dbSNP Id: rs80356485

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911076C>T , CM000679.2:g.42911076C>T GRCh38
NC_000017.10:g.41063093C>T , CM000679.1:g.41063093C>T GRCh37
NC_000017.9:g.38316619C>T NCBI36
NG_011808.1:g.15279C>T , LRG_147:g.15279C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.724C>T MANE Select ENSP00000253801.1:p.Gln242Ter
ENST00000253801.6:c.724C>T ENSP00000253801.1:p.Gln242Ter
ENST00000585489.1:c.*116C>T ENSP00000466202.1:n.*116C>T
ENST00000592383.5:c.*116C>T ENSP00000465958.1:n.*116C>T
NM_000151.3:c.724C>T NP_000142.2:p.Gln242Ter
NM_001270397.1:c.*116C>T NP_001257326.1:n.*116C>T
NM_000151.4:c.724C>T MANE Select NP_000142.2:p.Gln242Ter
NM_001270397.2:c.*116C>T NP_001257326.1:n.*116C>T