Canonical Allele Identifier: CA2260697513
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911378C= , CM000679.2:g.42911378C= GRCh38
NC_000017.10:g.41063395C= , CM000679.1:g.41063395C= GRCh37
NC_000017.9:g.38316921C= NCBI36
NG_011808.1:g.15581C= , LRG_147:g.15581C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1026C= MANE Select ENSP00000253801.1:p.Pro342=
ENST00000253801.6:c.1026C= ENSP00000253801.1:p.Pro342=
ENST00000585489.1:c.*418C= ENSP00000466202.1:n.*418C=
NM_000151.3:c.1026C= NP_000142.2:p.Pro342=
NM_001270397.1:c.*418C= NP_001257326.1:n.*418C=
NM_000151.4:c.1026C= MANE Select NP_000142.2:p.Pro342=
NM_001270397.2:c.*418C= NP_001257326.1:n.*418C=