Canonical Allele Identifier: CA399654942
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 558339
ClinVar RCV Id: RCV000674590
dbSNP Id: rs1555559991
MyVariant Identifiers: chr17:g.41061389C>A (hg19) chr17:g.42909372C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909372C>A , CM000679.2:g.42909372C>A GRCh38
NC_000017.10:g.41061389C>A , CM000679.1:g.41061389C>A GRCh37
NC_000017.9:g.38314915C>A NCBI36
NG_011808.1:g.13575C>A , LRG_147:g.13575C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.516C>A MANE Select ENSP00000253801.1:p.Tyr172Ter
ENST00000253801.6:c.516C>A ENSP00000253801.1:p.Tyr172Ter
ENST00000585489.1:c.447-1543C>A ENSP00000466202.1:n.447-1543C>A
ENST00000592383.5:c.439C>A ENSP00000465958.1:p.Pro147Thr
NM_000151.3:c.516C>A NP_000142.2:p.Tyr172Ter
NM_001270397.1:c.439C>A NP_001257326.1:p.Pro147Thr
NM_000151.4:c.516C>A MANE Select NP_000142.2:p.Tyr172Ter
NM_001270397.2:c.439C>A NP_001257326.1:p.Pro147Thr
Search 100 bp 5'
Search 100 bp 3'