Canonical Allele Identifier: CA2260697382
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911082T= , CM000679.2:g.42911082T= GRCh38
NC_000017.10:g.41063099T= , CM000679.1:g.41063099T= GRCh37
NC_000017.9:g.38316625T= NCBI36
NG_011808.1:g.15285T= , LRG_147:g.15285T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.730T= MANE Select ENSP00000253801.1:p.Trp244=
ENST00000253801.6:c.730T= ENSP00000253801.1:p.Trp244=
ENST00000585489.1:c.*122T= ENSP00000466202.1:n.*122T=
ENST00000592383.5:c.*122T= ENSP00000465958.1:n.*122T=
NM_000151.3:c.730T= NP_000142.2:p.Trp244=
NM_001270397.1:c.*122T= NP_001257326.1:n.*122T=
NM_000151.4:c.730T= MANE Select NP_000142.2:p.Trp244=
NM_001270397.2:c.*122T= NP_001257326.1:n.*122T=