Canonical Allele Identifier: CA8587599
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2138032
ClinVar RCV Id: RCV003050475
dbSNP Id: rs763543607
ExAC: 17:41061405 C / G
gnomAD v2: 17-41061405-C-G
gnomAD v4: 17-42909388-C-G
MyVariant Identifiers: chr17:g.41061405C>G (hg19) chr17:g.42909388C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909388C>G , CM000679.2:g.42909388C>G GRCh38
NC_000017.10:g.41061405C>G , CM000679.1:g.41061405C>G GRCh37
NC_000017.9:g.38314931C>G NCBI36
NG_011808.1:g.13591C>G , LRG_147:g.13591C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.532C>G MANE Select ENSP00000253801.1:p.Pro178Ala
ENST00000253801.6:c.532C>G ENSP00000253801.1:p.Pro178Ala
ENST00000585489.1:c.447-1527C>G ENSP00000466202.1:n.447-1527C>G
ENST00000592383.5:c.455C>G ENSP00000465958.1:p.Ser152Cys
NM_000151.3:c.532C>G NP_000142.2:p.Pro178Ala
NM_001270397.1:c.455C>G NP_001257326.1:p.Ser152Cys
NM_000151.4:c.532C>G MANE Select NP_000142.2:p.Pro178Ala
NM_001270397.2:c.455C>G NP_001257326.1:p.Ser152Cys
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