Canonical Allele Identifier: CA399654726
Gene: G6PC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909321G>C , CM000679.2:g.42909321G>C GRCh38
NC_000017.10:g.41061338G>C , CM000679.1:g.41061338G>C GRCh37
NC_000017.9:g.38314864G>C NCBI36
NG_011808.1:g.13524G>C , LRG_147:g.13524G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.465G>C MANE Select ENSP00000253801.1:p.Leu155Phe
ENST00000253801.6:c.465G>C ENSP00000253801.1:p.Leu155Phe
ENST00000585489.1:c.447-1594G>C ENSP00000466202.1:n.447-1594G>C
ENST00000592383.5:c.388G>C ENSP00000465958.1:p.Val130Leu
NM_000151.3:c.465G>C NP_000142.2:p.Leu155Phe
NM_001270397.1:c.388G>C NP_001257326.1:p.Val130Leu
NM_000151.4:c.465G>C MANE Select NP_000142.2:p.Leu155Phe
NM_001270397.2:c.388G>C NP_001257326.1:p.Val130Leu