Canonical Allele Identifier: CA2260697459
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911251T= , CM000679.2:g.42911251T= GRCh38
NC_000017.10:g.41063268T= , CM000679.1:g.41063268T= GRCh37
NC_000017.9:g.38316794T= NCBI36
NG_011808.1:g.15454T= , LRG_147:g.15454T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.899T= MANE Select ENSP00000253801.1:p.Val300=
ENST00000253801.6:c.899T= ENSP00000253801.1:p.Val300=
ENST00000585489.1:c.*291T= ENSP00000466202.1:n.*291T=
ENST00000592383.5:c.*291T= ENSP00000465958.1:n.*291T=
NM_000151.3:c.899T= NP_000142.2:p.Val300=
NM_001270397.1:c.*291T= NP_001257326.1:n.*291T=
NM_000151.4:c.899T= MANE Select NP_000142.2:p.Val300=
NM_001270397.2:c.*291T= NP_001257326.1:n.*291T=