Canonical Allele Identifier: CA274195
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188966
ClinVar RCV Id: RCV000169341
dbSNP Id: rs764920787

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901065G>A , CM000679.2:g.42901065G>A GRCh38
NC_000017.10:g.41053082G>A , CM000679.1:g.41053082G>A GRCh37
NC_000017.9:g.38306608G>A NCBI36
NG_011808.1:g.5268G>A , LRG_147:g.5268G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.189G>A MANE Select ENSP00000253801.1:p.Trp63Ter
ENST00000253801.6:c.189G>A ENSP00000253801.1:p.Trp63Ter
ENST00000585489.1:c.189G>A ENSP00000466202.1:p.Trp63Ter
ENST00000588481.1:n.254G>A
ENST00000592383.5:c.189G>A ENSP00000465958.1:p.Trp63Ter
NM_000151.3:c.189G>A NP_000142.2:p.Trp63Ter
NM_001270397.1:c.189G>A NP_001257326.1:p.Trp63Ter
NM_000151.4:c.189G>A MANE Select NP_000142.2:p.Trp63Ter
NM_001270397.2:c.189G>A NP_001257326.1:p.Trp63Ter