Canonical Allele Identifier: CA500229471
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2905900
ClinVar RCV Id: RCV003624390
gnomAD v4: 17-42911372-C-T
COSMIC: COSM5386415
MyVariant Identifiers: chr17:g.41063389C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911372C>T , CM000679.2:g.42911372C>T GRCh38
NC_000017.10:g.41063389C>T , CM000679.1:g.41063389C>T GRCh37
NC_000017.9:g.38316915C>T NCBI36
NG_011808.1:g.15575C>T , LRG_147:g.15575C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1020C>T MANE Select ENSP00000253801.1:p.Val340=
ENST00000253801.6:c.1020C>T ENSP00000253801.1:p.Val340=
ENST00000585489.1:c.*412C>T ENSP00000466202.1:n.*412C>T
NM_000151.3:c.1020C>T NP_000142.2:p.Val340=
NM_001270397.1:c.*412C>T NP_001257326.1:n.*412C>T
NM_000151.4:c.1020C>T MANE Select NP_000142.2:p.Val340=
NM_001270397.2:c.*412C>T NP_001257326.1:n.*412C>T
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