Canonical Allele Identifier: CA399654744
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1949641
ClinVar RCV Id: RCV002659510
dbSNP Id: rs1418925476

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909325T>C , CM000679.2:g.42909325T>C GRCh38
NC_000017.10:g.41061342T>C , CM000679.1:g.41061342T>C GRCh37
NC_000017.9:g.38314868T>C NCBI36
NG_011808.1:g.13528T>C , LRG_147:g.13528T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.469T>C MANE Select ENSP00000253801.1:p.Leu157=
ENST00000253801.6:c.469T>C ENSP00000253801.1:p.Leu157=
ENST00000585489.1:c.447-1590T>C ENSP00000466202.1:n.447-1590T>C
ENST00000592383.5:c.392T>C ENSP00000465958.1:p.Val131Ala
NM_000151.3:c.469T>C NP_000142.2:p.Leu157=
NM_001270397.1:c.392T>C NP_001257326.1:p.Val131Ala
NM_000151.4:c.469T>C MANE Select NP_000142.2:p.Leu157=
NM_001270397.2:c.392T>C NP_001257326.1:p.Val131Ala