Canonical Allele Identifier: CA399655481

Gene: G6PC1

Linked Data

• MyVariant Identifiers: chr17:g.41062967A>T (hg19) ; chr17:g.42910950A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42910950A>T , CM000679.2:g.42910950A>T	GRCh38
NC_000017.10:g.41062967A>T , CM000679.1:g.41062967A>T	GRCh37
NC_000017.9:g.38316493A>T	NCBI36
NG_011808.1:g.15153A>T , LRG_147:g.15153A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.598A>T MANE Select	ENSP00000253801.1:p.Ser200Cys
ENST00000253801.6:c.598A>T	ENSP00000253801.1:p.Ser200Cys
ENST00000585489.1:c.482A>T	ENSP00000466202.1:p.Gln161Leu
ENST00000592383.5:c.521A>T	ENSP00000465958.1:p.Gln174Leu
NM_000151.3:c.598A>T	NP_000142.2:p.Ser200Cys
NM_001270397.1:c.521A>T	NP_001257326.1:p.Gln174Leu
NM_000151.4:c.598A>T MANE Select	NP_000142.2:p.Ser200Cys
NM_001270397.2:c.521A>T	NP_001257326.1:p.Gln174Leu