Canonical Allele Identifier: CA399651310
Gene: G6PC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901072G>T , CM000679.2:g.42901072G>T GRCh38
NC_000017.10:g.41053089G>T , CM000679.1:g.41053089G>T GRCh37
NC_000017.9:g.38306615G>T NCBI36
NG_011808.1:g.5275G>T , LRG_147:g.5275G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.196G>T MANE Select ENSP00000253801.1:p.Val66Leu
ENST00000253801.6:c.196G>T ENSP00000253801.1:p.Val66Leu
ENST00000585489.1:c.196G>T ENSP00000466202.1:p.Val66Leu
ENST00000588481.1:n.261G>T
ENST00000592383.5:c.196G>T ENSP00000465958.1:p.Val66Leu
NM_000151.3:c.196G>T NP_000142.2:p.Val66Leu
NM_001270397.1:c.196G>T NP_001257326.1:p.Val66Leu
NM_000151.4:c.196G>T MANE Select NP_000142.2:p.Val66Leu
NM_001270397.2:c.196G>T NP_001257326.1:p.Val66Leu