Canonical Allele Identifier: CA256190

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 12008
• ClinVar RCV Id: RCV000012788 ; RCV001723560
• dbSNP Id: rs80356482
• ExAC: 17:41061435 G / C
• gnomAD v2: 17-41061435-G-C
• gnomAD v3: 17-42909418-G-C
• gnomAD v4: 17-42909418-G-C
• MyVariant Identifiers: chr17:g.41061435G>C (hg19) ; chr17:g.42909418G>C (hg38)
• PubMed: PMID:8733042 ; PMID:10960498 ; PMID:11739393 ; PMID:12373566 ; PMID:20301489 ; PMID:23352793

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.562G>C MANE Select	ENSP00000253801.1:p.Gly188Arg
ENST00000253801.6:c.562G>C	ENSP00000253801.1:p.Gly188Arg
ENST00000585489.1:c.447-1497G>C	ENSP00000466202.1:n.447-1497G>C
ENST00000592383.5:c.485G>C	ENSP00000465958.1:p.Arg162Thr
NM_000151.3:c.562G>C	NP_000142.2:p.Gly188Arg
NM_001270397.1:c.485G>C	NP_001257326.1:p.Arg162Thr
NM_000151.4:c.562G>C MANE Select	NP_000142.2:p.Gly188Arg
NM_001270397.2:c.485G>C	NP_001257326.1:p.Arg162Thr