Canonical Allele Identifier: CA256176

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 11997
• ClinVar RCV Id: RCV000417779 ; RCV000012777
• dbSNP Id: rs80356488
• ExAC: 17:41059575 G / GTA
• gnomAD v2: 17-41059575-G-GTA
• gnomAD v3: 17-42907558-G-GTA
• gnomAD v4: 17-42907558-G-GTA
• MyVariant Identifiers: chr17:g.41059578_41059579dupTA (hg19) ; chr17:g.41059575_41059576insTA (hg19) ; chr17:g.42907561_42907562dupTA (hg38) ; chr17:g.42907558_42907559insTA (hg38)
• PubMed: PMID:7573034 ; PMID:7814621 ; PMID:8211187 ; PMID:10094563 ; PMID:10834516 ; PMID:11386847 ; PMID:11949931 ; PMID:12373566 ; PMID:19541498 ; PMID:20301489 ; PMID:22899091

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42907561_42907562dup , CM000679.2:g.42907561_42907562dup	GRCh38
NC_000017.10:g.41059578_41059579dup , CM000679.1:g.41059578_41059579dup	GRCh37
NC_000017.9:g.38313104_38313105dup	NCBI36
NG_011808.1:g.11764_11765dup , LRG_147:g.11764_11765dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.379_380dup MANE Select	ENSP00000253801.1:p.Tyr128ThrfsTer3
ENST00000253801.6:c.379_380dup	ENSP00000253801.1:p.Tyr128ThrfsTer3
ENST00000585489.1:c.379_380dup	ENSP00000466202.1:p.Tyr128ThrfsTer3
ENST00000592383.5:c.341-39_341-38dup	ENSP00000465958.1:n.341-39_341-38dup
NM_000151.3:c.379_380dup	NP_000142.2:p.Tyr128ThrfsTer3
NM_001270397.1:c.341-39_341-38dup	NP_001257326.1:n.341-39_341-38dup
NM_000151.4:c.379_380dup MANE Select	NP_000142.2:p.Tyr128ThrfsTer3
NM_001270397.2:c.341-39_341-38dup	NP_001257326.1:n.341-39_341-38dup