Canonical Allele Identifier: CA399657939
Gene: G6PC1 HGNC NCBI

Linked Data

COSMIC: COSM979702

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911414G>T , CM000679.2:g.42911414G>T GRCh38
NC_000017.10:g.41063431G>T , CM000679.1:g.41063431G>T GRCh37
NC_000017.9:g.38316957G>T NCBI36
NG_011808.1:g.15617G>T , LRG_147:g.15617G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1062G>T MANE Select ENSP00000253801.1:p.Lys354Asn
ENST00000253801.6:c.1062G>T ENSP00000253801.1:p.Lys354Asn
ENST00000585489.1:c.*454G>T ENSP00000466202.1:n.*454G>T
NM_000151.3:c.1062G>T NP_000142.2:p.Lys354Asn
NM_001270397.1:c.*454G>T NP_001257326.1:n.*454G>T
NM_000151.4:c.1062G>T MANE Select NP_000142.2:p.Lys354Asn
NM_001270397.2:c.*454G>T NP_001257326.1:n.*454G>T