Canonical Allele Identifier: CA915950016

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 751710
• ClinVar RCV Id: RCV001473808
• dbSNP Id: rs1597990833

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909297T>C , CM000679.2:g.42909297T>C	GRCh38
NC_000017.10:g.41061314T>C , CM000679.1:g.41061314T>C	GRCh37
NC_000017.9:g.38314840T>C	NCBI36
NG_011808.1:g.13500T>C , LRG_147:g.13500T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.447-6T>C MANE Select	ENSP00000253801.1:n.447-6T>C
ENST00000253801.6:c.447-6T>C	ENSP00000253801.1:n.447-6T>C
ENST00000585489.1:c.447-1618T>C	ENSP00000466202.1:n.447-1618T>C
ENST00000592383.5:c.370-6T>C	ENSP00000465958.1:n.370-6T>C
NM_000151.3:c.447-6T>C	NP_000142.2:n.447-6T>C
NM_001270397.1:c.370-6T>C	NP_001257326.1:n.370-6T>C
NM_000151.4:c.447-6T>C MANE Select	NP_000142.2:n.447-6T>C
NM_001270397.2:c.370-6T>C	NP_001257326.1:n.370-6T>C