Canonical Allele Identifier: CA399651450
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210409
ClinVar RCV Id: RCV001580705
dbSNP Id: rs1567702823

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901085G>C , CM000679.2:g.42901085G>C GRCh38
NC_000017.10:g.41053102G>C , CM000679.1:g.41053102G>C GRCh37
NC_000017.9:g.38306628G>C NCBI36
NG_011808.1:g.5288G>C , LRG_147:g.5288G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.209G>C MANE Select ENSP00000253801.1:p.Trp70Ser
ENST00000253801.6:c.209G>C ENSP00000253801.1:p.Trp70Ser
ENST00000585489.1:c.209G>C ENSP00000466202.1:p.Trp70Ser
ENST00000588481.1:n.274G>C
ENST00000592383.5:c.209G>C ENSP00000465958.1:p.Trp70Ser
NM_000151.3:c.209G>C NP_000142.2:p.Trp70Ser
NM_001270397.1:c.209G>C NP_001257326.1:p.Trp70Ser
NM_000151.4:c.209G>C MANE Select NP_000142.2:p.Trp70Ser
NM_001270397.2:c.209G>C NP_001257326.1:p.Trp70Ser