Canonical Allele Identifier: CA8587589
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 558315
ClinVar RCV Id: RCV000674563 RCV004026136
dbSNP Id: rs549712764
ExAC: 17:41061320 G / A
gnomAD v2: 17-41061320-G-A
gnomAD v3: 17-42909303-G-A
gnomAD v4: 17-42909303-G-A
MyVariant Identifiers: chr17:g.41061320G>A (hg19) chr17:g.42909303G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909303G>A , CM000679.2:g.42909303G>A GRCh38
NC_000017.10:g.41061320G>A , CM000679.1:g.41061320G>A GRCh37
NC_000017.9:g.38314846G>A NCBI36
NG_011808.1:g.13506G>A , LRG_147:g.13506G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.447G>A MANE Select ENSP00000253801.1:p.Arg149=
ENST00000253801.6:c.447G>A ENSP00000253801.1:p.Arg149=
ENST00000585489.1:c.447-1612G>A ENSP00000466202.1:n.447-1612G>A
ENST00000592383.5:c.370G>A ENSP00000465958.1:p.Val124Met
NM_000151.3:c.447G>A NP_000142.2:p.Arg149=
NM_001270397.1:c.370G>A NP_001257326.1:p.Val124Met
NM_000151.4:c.447G>A MANE Select NP_000142.2:p.Arg149=
NM_001270397.2:c.370G>A NP_001257326.1:p.Val124Met
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