Canonical Allele Identifier: CA399650038
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 554430
ClinVar RCV Id: RCV000670061
dbSNP Id: rs1555558914

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42900923C>G , CM000679.2:g.42900923C>G GRCh38
NC_000017.10:g.41052940C>G , CM000679.1:g.41052940C>G GRCh37
NC_000017.9:g.38306466C>G NCBI36
NG_011808.1:g.5126C>G , LRG_147:g.5126C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.47C>G MANE Select ENSP00000253801.1:p.Thr16Arg
ENST00000253801.6:c.47C>G ENSP00000253801.1:p.Thr16Arg
ENST00000585489.1:c.47C>G ENSP00000466202.1:p.Thr16Arg
ENST00000588481.1:n.112C>G
ENST00000592383.5:c.47C>G ENSP00000465958.1:p.Thr16Arg
NM_000151.3:c.47C>G NP_000142.2:p.Thr16Arg
NM_001270397.1:c.47C>G NP_001257326.1:p.Thr16Arg
NM_000151.4:c.47C>G MANE Select NP_000142.2:p.Thr16Arg
NM_001270397.2:c.47C>G NP_001257326.1:p.Thr16Arg