Canonical Allele Identifier: CA399657329
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2716659
ClinVar RCV Id: RCV003513205

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911316T>C , CM000679.2:g.42911316T>C GRCh38
NC_000017.10:g.41063333T>C , CM000679.1:g.41063333T>C GRCh37
NC_000017.9:g.38316859T>C NCBI36
NG_011808.1:g.15519T>C , LRG_147:g.15519T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.964T>C MANE Select ENSP00000253801.1:p.Phe322Leu
ENST00000253801.6:c.964T>C ENSP00000253801.1:p.Phe322Leu
ENST00000585489.1:c.*356T>C ENSP00000466202.1:n.*356T>C
ENST00000592383.5:c.*356T>C ENSP00000465958.1:n.*356T>C
NM_000151.3:c.964T>C NP_000142.2:p.Phe322Leu
NM_001270397.1:c.*356T>C NP_001257326.1:n.*356T>C
NM_000151.4:c.964T>C MANE Select NP_000142.2:p.Phe322Leu
NM_001270397.2:c.*356T>C NP_001257326.1:n.*356T>C