Canonical Allele Identifier: CA399654753

Gene: G6PC1

Linked Data

• MyVariant Identifiers: chr17:g.41061344G>C (hg19) ; chr17:g.42909327G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909327G>C , CM000679.2:g.42909327G>C	GRCh38
NC_000017.10:g.41061344G>C , CM000679.1:g.41061344G>C	GRCh37
NC_000017.9:g.38314870G>C	NCBI36
NG_011808.1:g.13530G>C , LRG_147:g.13530G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.471G>C MANE Select	ENSP00000253801.1:p.Leu157Phe
ENST00000253801.6:c.471G>C	ENSP00000253801.1:p.Leu157Phe
ENST00000585489.1:c.447-1588G>C	ENSP00000466202.1:n.447-1588G>C
ENST00000592383.5:c.394G>C	ENSP00000465958.1:p.Gly132Arg
NM_000151.3:c.471G>C	NP_000142.2:p.Leu157Phe
NM_001270397.1:c.394G>C	NP_001257326.1:p.Gly132Arg
NM_000151.4:c.471G>C MANE Select	NP_000142.2:p.Leu157Phe
NM_001270397.2:c.394G>C	NP_001257326.1:p.Gly132Arg