Canonical Allele Identifier: CA290783689

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 1077646
• ClinVar RCV Id: RCV001392310
• dbSNP Id: rs148461633
• gnomAD v2: 17-41053001-C-T
• gnomAD v3: 17-42900984-C-T
• gnomAD v4: 17-42900984-C-T
• MyVariant Identifiers: chr17:g.41053001C>T (hg19) ; chr17:g.42900984C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42900984C>T , CM000679.2:g.42900984C>T	GRCh38
NC_000017.10:g.41053001C>T , CM000679.1:g.41053001C>T	GRCh37
NC_000017.9:g.38306527C>T	NCBI36
NG_011808.1:g.5187C>T , LRG_147:g.5187C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.108C>T MANE Select	ENSP00000253801.1:p.Ile36=
ENST00000253801.6:c.108C>T	ENSP00000253801.1:p.Ile36=
ENST00000585489.1:c.108C>T	ENSP00000466202.1:p.Ile36=
ENST00000588481.1:n.173C>T
ENST00000592383.5:c.108C>T	ENSP00000465958.1:p.Ile36=
NM_000151.3:c.108C>T	NP_000142.2:p.Ile36=
NM_001270397.1:c.108C>T	NP_001257326.1:p.Ile36=
NM_000151.4:c.108C>T MANE Select	NP_000142.2:p.Ile36=
NM_001270397.2:c.108C>T	NP_001257326.1:p.Ile36=