Canonical Allele Identifier: CA290788669

Gene: G6PC1

Linked Data

• dbSNP Id: rs555562439
• gnomAD v2: 17-41061061-A-G
• gnomAD v3: 17-42909044-A-G
• gnomAD v4: 17-42909044-A-G
• MyVariant Identifiers: chr17:g.41061061A>G (hg19) ; chr17:g.42909044A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909044A>G , CM000679.2:g.42909044A>G	GRCh38
NC_000017.10:g.41061061A>G , CM000679.1:g.41061061A>G	GRCh37
NC_000017.9:g.38314587A>G	NCBI36
NG_011808.1:g.13247A>G , LRG_147:g.13247A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.447-259A>G MANE Select	ENSP00000253801.1:n.447-259A>G
ENST00000253801.6:c.447-259A>G	ENSP00000253801.1:n.447-259A>G
ENST00000585489.1:c.446+1416A>G	ENSP00000466202.1:n.446+1416A>G
ENST00000592383.5:c.370-259A>G	ENSP00000465958.1:n.370-259A>G
NM_000151.3:c.447-259A>G	NP_000142.2:n.447-259A>G
NM_001270397.1:c.370-259A>G	NP_001257326.1:n.370-259A>G
NM_000151.4:c.447-259A>G MANE Select	NP_000142.2:n.447-259A>G
NM_001270397.2:c.370-259A>G	NP_001257326.1:n.370-259A>G