Canonical Allele Identifier: CA16043527

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 374125
• ClinVar RCV Id: RCV000415061
• dbSNP Id: rs104894569
• MyVariant Identifiers: chr17:g.41061424G>T (hg19) ; chr17:g.42909407G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909407G>T , CM000679.2:g.42909407G>T	GRCh38
NC_000017.10:g.41061424G>T , CM000679.1:g.41061424G>T	GRCh37
NC_000017.9:g.38314950G>T	NCBI36
NG_011808.1:g.13610G>T , LRG_147:g.13610G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.551G>T MANE Select	ENSP00000253801.1:p.Gly184Val
ENST00000253801.6:c.551G>T	ENSP00000253801.1:p.Gly184Val
ENST00000585489.1:c.447-1508G>T	ENSP00000466202.1:n.447-1508G>T
ENST00000592383.5:c.474G>T	ENSP00000465958.1:p.Trp158Cys
NM_000151.3:c.551G>T	NP_000142.2:p.Gly184Val
NM_001270397.1:c.474G>T	NP_001257326.1:p.Trp158Cys
NM_000151.4:c.551G>T MANE Select	NP_000142.2:p.Gly184Val
NM_001270397.2:c.474G>T	NP_001257326.1:p.Trp158Cys