Canonical Allele Identifier: CA399651154
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1800118
ClinVar RCV Id: RCV004067411

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901057C>T , CM000679.2:g.42901057C>T GRCh38
NC_000017.10:g.41053074C>T , CM000679.1:g.41053074C>T GRCh37
NC_000017.9:g.38306600C>T NCBI36
NG_011808.1:g.5260C>T , LRG_147:g.5260C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.181C>T MANE Select ENSP00000253801.1:p.Leu61Phe
ENST00000253801.6:c.181C>T ENSP00000253801.1:p.Leu61Phe
ENST00000585489.1:c.181C>T ENSP00000466202.1:p.Leu61Phe
ENST00000588481.1:n.246C>T
ENST00000592383.5:c.181C>T ENSP00000465958.1:p.Leu61Phe
NM_000151.3:c.181C>T NP_000142.2:p.Leu61Phe
NM_001270397.1:c.181C>T NP_001257326.1:p.Leu61Phe
NM_000151.4:c.181C>T MANE Select NP_000142.2:p.Leu61Phe
NM_001270397.2:c.181C>T NP_001257326.1:p.Leu61Phe