Canonical Allele Identifier: CA500229551
Gene: G6PC1 HGNC NCBI

Linked Data

COSMIC: COSM3517841
MyVariant Identifiers: chr17:g.41063431G>A (hg19)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1062G>A MANE Select ENSP00000253801.1:p.Lys354=
ENST00000253801.6:c.1062G>A ENSP00000253801.1:p.Lys354=
ENST00000585489.1:c.*454G>A ENSP00000466202.1:n.*454G>A
NM_000151.3:c.1062G>A NP_000142.2:p.Lys354=
NM_001270397.1:c.*454G>A NP_001257326.1:n.*454G>A
NM_000151.4:c.1062G>A MANE Select NP_000142.2:p.Lys354=
NM_001270397.2:c.*454G>A NP_001257326.1:n.*454G>A
Search 100 bp 5'
Search 100 bp 3'