Canonical Allele Identifier: CA2260697396
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911110T= , CM000679.2:g.42911110T= GRCh38
NC_000017.10:g.41063127T= , CM000679.1:g.41063127T= GRCh37
NC_000017.9:g.38316653T= NCBI36
NG_011808.1:g.15313T= , LRG_147:g.15313T=

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.758T= MANE Select ENSP00000253801.1:p.Ile253=
ENST00000253801.6:c.758T= ENSP00000253801.1:p.Ile253=
ENST00000585489.1:c.*150T= ENSP00000466202.1:n.*150T=
ENST00000592383.5:c.*150T= ENSP00000465958.1:n.*150T=
NM_000151.3:c.758T= NP_000142.2:p.Ile253=
NM_001270397.1:c.*150T= NP_001257326.1:n.*150T=
NM_000151.4:c.758T= MANE Select NP_000142.2:p.Ile253=
NM_001270397.2:c.*150T= NP_001257326.1:n.*150T=