Canonical Allele Identifier: CA399654895

Gene: G6PC1

Linked Data

• gnomAD v4: 17-42909358-C-G
• MyVariant Identifiers: chr17:g.41061375C>G (hg19) ; chr17:g.42909358C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909358C>G , CM000679.2:g.42909358C>G	GRCh38
NC_000017.10:g.41061375C>G , CM000679.1:g.41061375C>G	GRCh37
NC_000017.9:g.38314901C>G	NCBI36
NG_011808.1:g.13561C>G , LRG_147:g.13561C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.502C>G MANE Select	ENSP00000253801.1:p.Leu168Val
ENST00000253801.6:c.502C>G	ENSP00000253801.1:p.Leu168Val
ENST00000585489.1:c.447-1557C>G	ENSP00000466202.1:n.447-1557C>G
ENST00000592383.5:c.425C>G	ENSP00000465958.1:p.Ser142Cys
NM_000151.3:c.502C>G	NP_000142.2:p.Leu168Val
NM_001270397.1:c.425C>G	NP_001257326.1:p.Ser142Cys
NM_000151.4:c.502C>G MANE Select	NP_000142.2:p.Leu168Val
NM_001270397.2:c.425C>G	NP_001257326.1:p.Ser142Cys