Canonical Allele Identifier: CA10639722
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 323361
ClinVar RCV Id: RCV000331204
dbSNP Id: rs886052956
gnomAD v4: 17-42910929-G-C
MyVariant Identifiers: chr17:g.41062946G>C (hg19) chr17:g.42910929G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42910929G>C , CM000679.2:g.42910929G>C GRCh38
NC_000017.10:g.41062946G>C , CM000679.1:g.41062946G>C GRCh37
NC_000017.9:g.38316472G>C NCBI36
NG_011808.1:g.15132G>C , LRG_147:g.15132G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.577G>C MANE Select ENSP00000253801.1:p.Glu193Gln
ENST00000253801.6:c.577G>C ENSP00000253801.1:p.Glu193Gln
ENST00000585489.1:c.461G>C ENSP00000466202.1:p.Arg154Thr
ENST00000592383.5:c.500G>C ENSP00000465958.1:p.Arg167Thr
NM_000151.3:c.577G>C NP_000142.2:p.Glu193Gln
NM_001270397.1:c.500G>C NP_001257326.1:p.Arg167Thr
NM_000151.4:c.577G>C MANE Select NP_000142.2:p.Glu193Gln
NM_001270397.2:c.500G>C NP_001257326.1:p.Arg167Thr
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