Canonical Allele Identifier: CA399654757
Gene: G6PC1 HGNC NCBI

Linked Data

COSMIC: COSM561096

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909327G>T , CM000679.2:g.42909327G>T GRCh38
NC_000017.10:g.41061344G>T , CM000679.1:g.41061344G>T GRCh37
NC_000017.9:g.38314870G>T NCBI36
NG_011808.1:g.13530G>T , LRG_147:g.13530G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.471G>T MANE Select ENSP00000253801.1:p.Leu157Phe
ENST00000253801.6:c.471G>T ENSP00000253801.1:p.Leu157Phe
ENST00000585489.1:c.447-1588G>T ENSP00000466202.1:n.447-1588G>T
ENST00000592383.5:c.394G>T ENSP00000465958.1:p.Gly132Trp
NM_000151.3:c.471G>T NP_000142.2:p.Leu157Phe
NM_001270397.1:c.394G>T NP_001257326.1:p.Gly132Trp
NM_000151.4:c.471G>T MANE Select NP_000142.2:p.Leu157Phe
NM_001270397.2:c.394G>T NP_001257326.1:p.Gly132Trp