Canonical Allele Identifier: CA2260696637
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909325T= , CM000679.2:g.42909325T= GRCh38
NC_000017.10:g.41061342T= , CM000679.1:g.41061342T= GRCh37
NC_000017.9:g.38314868T= NCBI36
NG_011808.1:g.13528T= , LRG_147:g.13528T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.469T= MANE Select ENSP00000253801.1:p.Leu157=
ENST00000253801.6:c.469T= ENSP00000253801.1:p.Leu157=
ENST00000585489.1:c.447-1590T= ENSP00000466202.1:n.447-1590T=
ENST00000592383.5:c.392T= ENSP00000465958.1:p.Val131=
NM_000151.3:c.469T= NP_000142.2:p.Leu157=
NM_001270397.1:c.392T= NP_001257326.1:p.Val131=
NM_000151.4:c.469T= MANE Select NP_000142.2:p.Leu157=
NM_001270397.2:c.392T= NP_001257326.1:p.Val131=