Canonical Allele Identifier: CA399651564

Gene: G6PC1

Linked Data

• MyVariant Identifiers: chr17:g.41053118T>G (hg19) ; chr17:g.42901101T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901101T>G , CM000679.2:g.42901101T>G	GRCh38
NC_000017.10:g.41053118T>G , CM000679.1:g.41053118T>G	GRCh37
NC_000017.9:g.38306644T>G	NCBI36
NG_011808.1:g.5304T>G , LRG_147:g.5304T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.225T>G MANE Select	ENSP00000253801.1:p.Phe75Leu
ENST00000253801.6:c.225T>G	ENSP00000253801.1:p.Phe75Leu
ENST00000585489.1:c.225T>G	ENSP00000466202.1:p.Phe75Leu
ENST00000588481.1:n.290T>G
ENST00000592383.5:c.225T>G	ENSP00000465958.1:p.Phe75Leu
NM_000151.3:c.225T>G	NP_000142.2:p.Phe75Leu
NM_001270397.1:c.225T>G	NP_001257326.1:p.Phe75Leu
NM_000151.4:c.225T>G MANE Select	NP_000142.2:p.Phe75Leu
NM_001270397.2:c.225T>G	NP_001257326.1:p.Phe75Leu