Canonical Allele Identifier: CA2260696656
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909372C= , CM000679.2:g.42909372C= GRCh38
NC_000017.10:g.41061389C= , CM000679.1:g.41061389C= GRCh37
NC_000017.9:g.38314915C= NCBI36
NG_011808.1:g.13575C= , LRG_147:g.13575C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.516C= MANE Select ENSP00000253801.1:p.Tyr172=
ENST00000253801.6:c.516C= ENSP00000253801.1:p.Tyr172=
ENST00000585489.1:c.447-1543C= ENSP00000466202.1:n.447-1543C=
ENST00000592383.5:c.439C= ENSP00000465958.1:p.Pro147=
NM_000151.3:c.516C= NP_000142.2:p.Tyr172=
NM_001270397.1:c.439C= NP_001257326.1:p.Pro147=
NM_000151.4:c.516C= MANE Select NP_000142.2:p.Tyr172=
NM_001270397.2:c.439C= NP_001257326.1:p.Pro147=