Canonical Allele Identifier: CA16041844
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370616
ClinVar RCV Id: RCV000412063
dbSNP Id: rs1057516630

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909355dup , CM000679.2:g.42909355dup GRCh38
NC_000017.10:g.41061372dup , CM000679.1:g.41061372dup GRCh37
NC_000017.9:g.38314898dup NCBI36
NG_011808.1:g.13558dup , LRG_147:g.13558dup

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.499dup MANE Select ENSP00000253801.1:p.Cys167LeufsTer?
ENST00000253801.6:c.499dup ENSP00000253801.1:p.Cys167LeufsTer?
ENST00000585489.1:c.447-1560dup ENSP00000466202.1:n.447-1560dup
ENST00000592383.5:c.422dup ENSP00000465958.1:p.Ser142ValfsTer?
NM_000151.3:c.499dup NP_000142.2:p.Cys167LeufsTer?
NM_001270397.1:c.422dup NP_001257326.1:p.Ser142ValfsTer?
NM_000151.4:c.499dup MANE Select NP_000142.2:p.Cys167LeufsTer?
NM_001270397.2:c.422dup NP_001257326.1:p.Ser142ValfsTer?