Canonical Allele Identifier: CA8587606

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 890706
• ClinVar RCV Id: RCV001125477
• dbSNP Id: rs766230068
• ExAC: 17:41061426 G / A
• gnomAD v2: 17-41061426-G-A
• gnomAD v3: 17-42909409-G-A
• gnomAD v4: 17-42909409-G-A
• MyVariant Identifiers: chr17:g.41061426G>A (hg19) ; chr17:g.42909409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909409G>A , CM000679.2:g.42909409G>A	GRCh38
NC_000017.10:g.41061426G>A , CM000679.1:g.41061426G>A	GRCh37
NC_000017.9:g.38314952G>A	NCBI36
NG_011808.1:g.13612G>A , LRG_147:g.13612G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.553G>A MANE Select	ENSP00000253801.1:p.Val185Ile
ENST00000253801.6:c.553G>A	ENSP00000253801.1:p.Val185Ile
ENST00000585489.1:c.447-1506G>A	ENSP00000466202.1:n.447-1506G>A
ENST00000592383.5:c.476G>A	ENSP00000465958.1:p.Ser159Asn
NM_000151.3:c.553G>A	NP_000142.2:p.Val185Ile
NM_001270397.1:c.476G>A	NP_001257326.1:p.Ser159Asn
NM_000151.4:c.553G>A MANE Select	NP_000142.2:p.Val185Ile
NM_001270397.2:c.476G>A	NP_001257326.1:p.Ser159Asn