Canonical Allele Identifier: CA8587675
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs771651069

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911293C>T , CM000679.2:g.42911293C>T GRCh38
NC_000017.10:g.41063310C>T , CM000679.1:g.41063310C>T GRCh37
NC_000017.9:g.38316836C>T NCBI36
NG_011808.1:g.15496C>T , LRG_147:g.15496C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.941C>T MANE Select ENSP00000253801.1:p.Pro314Leu
ENST00000253801.6:c.941C>T ENSP00000253801.1:p.Pro314Leu
ENST00000585489.1:c.*333C>T ENSP00000466202.1:n.*333C>T
ENST00000592383.5:c.*333C>T ENSP00000465958.1:n.*333C>T
NM_000151.3:c.941C>T NP_000142.2:p.Pro314Leu
NM_001270397.1:c.*333C>T NP_001257326.1:n.*333C>T
NM_000151.4:c.941C>T MANE Select NP_000142.2:p.Pro314Leu
NM_001270397.2:c.*333C>T NP_001257326.1:n.*333C>T