Canonical Allele Identifier: CA399654787
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 928928
ClinVar RCV Id: RCV001193577
dbSNP Id: rs2056081522
MyVariant Identifiers: chr17:g.41061352G>A (hg19) chr17:g.42909335G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909335G>A , CM000679.2:g.42909335G>A GRCh38
NC_000017.10:g.41061352G>A , CM000679.1:g.41061352G>A GRCh37
NC_000017.9:g.38314878G>A NCBI36
NG_011808.1:g.13538G>A , LRG_147:g.13538G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.479G>A MANE Select ENSP00000253801.1:p.Trp160Ter
ENST00000253801.6:c.479G>A ENSP00000253801.1:p.Trp160Ter
ENST00000585489.1:c.447-1580G>A ENSP00000466202.1:n.447-1580G>A
ENST00000592383.5:c.402G>A ENSP00000465958.1:p.Leu134=
NM_000151.3:c.479G>A NP_000142.2:p.Trp160Ter
NM_001270397.1:c.402G>A NP_001257326.1:p.Leu134=
NM_000151.4:c.479G>A MANE Select NP_000142.2:p.Trp160Ter
NM_001270397.2:c.402G>A NP_001257326.1:p.Leu134=
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