Canonical Allele Identifier: CA399651447
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 813495
ClinVar RCV Id: RCV001004605
dbSNP Id: rs1567702823
gnomAD v3: 17-42901085-G-A
gnomAD v4: 17-42901085-G-A
MyVariant Identifiers: chr17:g.41053102G>A (hg19) chr17:g.42901085G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901085G>A , CM000679.2:g.42901085G>A GRCh38
NC_000017.10:g.41053102G>A , CM000679.1:g.41053102G>A GRCh37
NC_000017.9:g.38306628G>A NCBI36
NG_011808.1:g.5288G>A , LRG_147:g.5288G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.209G>A MANE Select ENSP00000253801.1:p.Trp70Ter
ENST00000253801.6:c.209G>A ENSP00000253801.1:p.Trp70Ter
ENST00000585489.1:c.209G>A ENSP00000466202.1:p.Trp70Ter
ENST00000588481.1:n.274G>A
ENST00000592383.5:c.209G>A ENSP00000465958.1:p.Trp70Ter
NM_000151.3:c.209G>A NP_000142.2:p.Trp70Ter
NM_001270397.1:c.209G>A NP_001257326.1:p.Trp70Ter
NM_000151.4:c.209G>A MANE Select NP_000142.2:p.Trp70Ter
NM_001270397.2:c.209G>A NP_001257326.1:p.Trp70Ter
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