Canonical Allele Identifier: CA399654841

Gene: G6PC1

Linked Data

• dbSNP Id: rs987462071
• gnomAD v2: 17-41061363-C-G
• gnomAD v4: 17-42909346-C-G
• MyVariant Identifiers: chr17:g.41061363C>G (hg19) ; chr17:g.42909346C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909346C>G , CM000679.2:g.42909346C>G	GRCh38
NC_000017.10:g.41061363C>G , CM000679.1:g.41061363C>G	GRCh37
NC_000017.9:g.38314889C>G	NCBI36
NG_011808.1:g.13549C>G , LRG_147:g.13549C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.490C>G MANE Select	ENSP00000253801.1:p.Leu164Val
ENST00000253801.6:c.490C>G	ENSP00000253801.1:p.Leu164Val
ENST00000585489.1:c.447-1569C>G	ENSP00000466202.1:n.447-1569C>G
ENST00000592383.5:c.413C>G	ENSP00000465958.1:p.Ala138Gly
NM_000151.3:c.490C>G	NP_000142.2:p.Leu164Val
NM_001270397.1:c.413C>G	NP_001257326.1:p.Ala138Gly
NM_000151.4:c.490C>G MANE Select	NP_000142.2:p.Leu164Val
NM_001270397.2:c.413C>G	NP_001257326.1:p.Ala138Gly