Canonical Allele Identifier: CA399656739

Gene: G6PC1

Linked Data

• MyVariant Identifiers: chr17:g.41063249T>G (hg19) ; chr17:g.42911232T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911232T>G , CM000679.2:g.42911232T>G	GRCh38
NC_000017.10:g.41063249T>G , CM000679.1:g.41063249T>G	GRCh37
NC_000017.9:g.38316775T>G	NCBI36
NG_011808.1:g.15435T>G , LRG_147:g.15435T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.880T>G MANE Select	ENSP00000253801.1:p.Phe294Val
ENST00000253801.6:c.880T>G	ENSP00000253801.1:p.Phe294Val
ENST00000585489.1:c.*272T>G	ENSP00000466202.1:n.*272T>G
ENST00000592383.5:c.*272T>G	ENSP00000465958.1:n.*272T>G
NM_000151.3:c.880T>G	NP_000142.2:p.Phe294Val
NM_001270397.1:c.*272T>G	NP_001257326.1:n.*272T>G
NM_000151.4:c.880T>G MANE Select	NP_000142.2:p.Phe294Val
NM_001270397.2:c.*272T>G	NP_001257326.1:n.*272T>G