Canonical Allele Identifier: CA399653153

Gene: G6PC1

Linked Data

• MyVariant Identifiers: chr17:g.41055965G>T (hg19) ; chr17:g.42903948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42903948G>T , CM000679.2:g.42903948G>T	GRCh38
NC_000017.10:g.41055965G>T , CM000679.1:g.41055965G>T	GRCh37
NC_000017.9:g.38309491G>T	NCBI36
NG_011808.1:g.8151G>T , LRG_147:g.8151G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.248G>T MANE Select	ENSP00000253801.1:p.Arg83Leu
ENST00000253801.6:c.248G>T	ENSP00000253801.1:p.Arg83Leu
ENST00000585489.1:c.248G>T	ENSP00000466202.1:p.Arg83Leu
ENST00000588481.1:n.313G>T
ENST00000592383.5:c.248G>T	ENSP00000465958.1:p.Arg83Leu
NM_000151.3:c.248G>T	NP_000142.2:p.Arg83Leu
NM_001270397.1:c.248G>T	NP_001257326.1:p.Arg83Leu
NM_000151.4:c.248G>T MANE Select	NP_000142.2:p.Arg83Leu
NM_001270397.2:c.248G>T	NP_001257326.1:p.Arg83Leu