Canonical Allele Identifier: CA8587609

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 289099
• ClinVar RCV Id: RCV000379778 ; RCV000726276 ; RCV001080035 ; RCV003930160
• dbSNP Id: rs199505156
• ExAC: 17:41061445 G / A
• gnomAD v2: 17-41061445-G-A
• gnomAD v3: 17-42909428-G-A
• gnomAD v4: 17-42909428-G-A
• MyVariant Identifiers: chr17:g.41061445G>A (hg19) ; chr17:g.42909428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909428G>A , CM000679.2:g.42909428G>A	GRCh38
NC_000017.10:g.41061445G>A , CM000679.1:g.41061445G>A	GRCh37
NC_000017.9:g.38314971G>A	NCBI36
NG_011808.1:g.13631G>A , LRG_147:g.13631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.562+10G>A MANE Select	ENSP00000253801.1:n.562+10G>A
ENST00000253801.6:c.562+10G>A	ENSP00000253801.1:n.562+10G>A
ENST00000585489.1:c.447-1487G>A	ENSP00000466202.1:n.447-1487G>A
ENST00000592383.5:c.485+10G>A	ENSP00000465958.1:n.485+10G>A
NM_000151.3:c.562+10G>A	NP_000142.2:n.562+10G>A
NM_001270397.1:c.485+10G>A	NP_001257326.1:n.485+10G>A
NM_000151.4:c.562+10G>A MANE Select	NP_000142.2:n.562+10G>A
NM_001270397.2:c.485+10G>A	NP_001257326.1:n.485+10G>A