Canonical Allele Identifier: CA500229313

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 2760293
• ClinVar RCV Id: RCV003512458
• MyVariant Identifiers: chr17:g.41052941A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42900924A>C , CM000679.2:g.42900924A>C	GRCh38
NC_000017.10:g.41052941A>C , CM000679.1:g.41052941A>C	GRCh37
NC_000017.9:g.38306467A>C	NCBI36
NG_011808.1:g.5127A>C , LRG_147:g.5127A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.48A>C MANE Select	ENSP00000253801.1:p.Thr16=
ENST00000253801.6:c.48A>C	ENSP00000253801.1:p.Thr16=
ENST00000585489.1:c.48A>C	ENSP00000466202.1:p.Thr16=
ENST00000588481.1:n.113A>C
ENST00000592383.5:c.48A>C	ENSP00000465958.1:p.Thr16=
NM_000151.3:c.48A>C	NP_000142.2:p.Thr16=
NM_001270397.1:c.48A>C	NP_001257326.1:p.Thr16=
NM_000151.4:c.48A>C MANE Select	NP_000142.2:p.Thr16=
NM_001270397.2:c.48A>C	NP_001257326.1:p.Thr16=