Canonical Allele Identifier: CA321440

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 214465
• ClinVar RCV Id: RCV000197003 ; RCV000587142
• dbSNP Id: rs80356482
• ExAC: 17:41061435 G / A
• gnomAD v2: 17-41061435-G-A
• gnomAD v3: 17-42909418-G-A
• gnomAD v4: 17-42909418-G-A
• MyVariant Identifiers: chr17:g.41061435G>A (hg19) ; chr17:g.42909418G>A (hg38)
• PubMed: PMID:7573034 ; PMID:11739393 ; PMID:12373566

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909418G>A , CM000679.2:g.42909418G>A	GRCh38
NC_000017.10:g.41061435G>A , CM000679.1:g.41061435G>A	GRCh37
NC_000017.9:g.38314961G>A	NCBI36
NG_011808.1:g.13621G>A , LRG_147:g.13621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.562G>A MANE Select	ENSP00000253801.1:p.Gly188Ser
ENST00000253801.6:c.562G>A	ENSP00000253801.1:p.Gly188Ser
ENST00000585489.1:c.447-1497G>A	ENSP00000466202.1:n.447-1497G>A
ENST00000592383.5:c.485G>A	ENSP00000465958.1:p.Arg162Lys
NM_000151.3:c.562G>A	NP_000142.2:p.Gly188Ser
NM_001270397.1:c.485G>A	NP_001257326.1:p.Arg162Lys
NM_000151.4:c.562G>A MANE Select	NP_000142.2:p.Gly188Ser
NM_001270397.2:c.485G>A	NP_001257326.1:p.Arg162Lys