Canonical Allele Identifier: CA399657266
Gene: G6PC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911302A>T , CM000679.2:g.42911302A>T GRCh38
NC_000017.10:g.41063319A>T , CM000679.1:g.41063319A>T GRCh37
NC_000017.9:g.38316845A>T NCBI36
NG_011808.1:g.15505A>T , LRG_147:g.15505A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.950A>T MANE Select ENSP00000253801.1:p.Gln317Leu
ENST00000253801.6:c.950A>T ENSP00000253801.1:p.Gln317Leu
ENST00000585489.1:c.*342A>T ENSP00000466202.1:n.*342A>T
ENST00000592383.5:c.*342A>T ENSP00000465958.1:n.*342A>T
NM_000151.3:c.950A>T NP_000142.2:p.Gln317Leu
NM_001270397.1:c.*342A>T NP_001257326.1:n.*342A>T
NM_000151.4:c.950A>T MANE Select NP_000142.2:p.Gln317Leu
NM_001270397.2:c.*342A>T NP_001257326.1:n.*342A>T