Canonical Allele Identifier: CA399657246

Gene: G6PC1

Linked Data

• MyVariant Identifiers: chr17:g.41063316C>T (hg19) ; chr17:g.42911299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911299C>T , CM000679.2:g.42911299C>T	GRCh38
NC_000017.10:g.41063316C>T , CM000679.1:g.41063316C>T	GRCh37
NC_000017.9:g.38316842C>T	NCBI36
NG_011808.1:g.15502C>T , LRG_147:g.15502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.947C>T MANE Select	ENSP00000253801.1:p.Ser316Phe
ENST00000253801.6:c.947C>T	ENSP00000253801.1:p.Ser316Phe
ENST00000585489.1:c.*339C>T	ENSP00000466202.1:n.*339C>T
ENST00000592383.5:c.*339C>T	ENSP00000465958.1:n.*339C>T
NM_000151.3:c.947C>T	NP_000142.2:p.Ser316Phe
NM_001270397.1:c.*339C>T	NP_001257326.1:n.*339C>T
NM_000151.4:c.947C>T MANE Select	NP_000142.2:p.Ser316Phe
NM_001270397.2:c.*339C>T	NP_001257326.1:n.*339C>T