Canonical Allele Identifier: CA2260697375
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911059G= , CM000679.2:g.42911059G= GRCh38
NC_000017.10:g.41063076G= , CM000679.1:g.41063076G= GRCh37
NC_000017.9:g.38316602G= NCBI36
NG_011808.1:g.15262G= , LRG_147:g.15262G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.707G= MANE Select ENSP00000253801.1:p.Trp236=
ENST00000253801.6:c.707G= ENSP00000253801.1:p.Trp236=
ENST00000585489.1:c.*99G= ENSP00000466202.1:n.*99G=
ENST00000592383.5:c.*99G= ENSP00000465958.1:n.*99G=
NM_000151.3:c.707G= NP_000142.2:p.Trp236=
NM_001270397.1:c.*99G= NP_001257326.1:n.*99G=
NM_000151.4:c.707G= MANE Select NP_000142.2:p.Trp236=
NM_001270397.2:c.*99G= NP_001257326.1:n.*99G=