Canonical Allele Identifier: CA399656112

Gene: G6PC1

Linked Data

• MyVariant Identifiers: chr17:g.41063121T>G (hg19) ; chr17:g.42911104T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911104T>G , CM000679.2:g.42911104T>G	GRCh38
NC_000017.10:g.41063121T>G , CM000679.1:g.41063121T>G	GRCh37
NC_000017.9:g.38316647T>G	NCBI36
NG_011808.1:g.15307T>G , LRG_147:g.15307T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.752T>G MANE Select	ENSP00000253801.1:p.Val251Gly
ENST00000253801.6:c.752T>G	ENSP00000253801.1:p.Val251Gly
ENST00000585489.1:c.*144T>G	ENSP00000466202.1:n.*144T>G
ENST00000592383.5:c.*144T>G	ENSP00000465958.1:n.*144T>G
NM_000151.3:c.752T>G	NP_000142.2:p.Val251Gly
NM_001270397.1:c.*144T>G	NP_001257326.1:n.*144T>G
NM_000151.4:c.752T>G MANE Select	NP_000142.2:p.Val251Gly
NM_001270397.2:c.*144T>G	NP_001257326.1:n.*144T>G