Canonical Allele Identifier: CA399651504

Gene: G6PC1

Linked Data

• dbSNP Id: rs2056023207
• gnomAD v3: 17-42901093-C-T
• gnomAD v4: 17-42901093-C-T
• MyVariant Identifiers: chr17:g.41053110C>T (hg19) ; chr17:g.42901093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901093C>T , CM000679.2:g.42901093C>T	GRCh38
NC_000017.10:g.41053110C>T , CM000679.1:g.41053110C>T	GRCh37
NC_000017.9:g.38306636C>T	NCBI36
NG_011808.1:g.5296C>T , LRG_147:g.5296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.217C>T MANE Select	ENSP00000253801.1:p.Leu73Phe
ENST00000253801.6:c.217C>T	ENSP00000253801.1:p.Leu73Phe
ENST00000585489.1:c.217C>T	ENSP00000466202.1:p.Leu73Phe
ENST00000588481.1:n.282C>T
ENST00000592383.5:c.217C>T	ENSP00000465958.1:p.Leu73Phe
NM_000151.3:c.217C>T	NP_000142.2:p.Leu73Phe
NM_001270397.1:c.217C>T	NP_001257326.1:p.Leu73Phe
NM_000151.4:c.217C>T MANE Select	NP_000142.2:p.Leu73Phe
NM_001270397.2:c.217C>T	NP_001257326.1:p.Leu73Phe