Canonical Allele Identifier: CA16041840

Gene: G6PC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42900955C>T , CM000679.2:g.42900955C>T	GRCh38
NC_000017.10:g.41052972C>T , CM000679.1:g.41052972C>T	GRCh37
NC_000017.9:g.38306498C>T	NCBI36
NG_011808.1:g.5158C>T , LRG_147:g.5158C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000151.4:c.79C>T MANE Select	NP_000142.2:p.Gln27Ter
ENST00000253801.7:c.79C>T MANE Select	ENSP00000253801.1:p.Gln27Ter
NM_000151.3:c.79C>T	NP_000142.2:p.Gln27Ter
NM_001270397.1:c.79C>T	NP_001257326.1:p.Gln27Ter
NM_001270397.2:c.79C>T	NP_001257326.1:p.Gln27Ter
ENST00000253801.6:c.79C>T	ENSP00000253801.1:p.Gln27Ter
ENST00000585489.1:c.79C>T	ENSP00000466202.1:p.Gln27Ter
ENST00000588481.1:n.144C>T
ENST00000592383.5:c.79C>T	ENSP00000465958.1:p.Gln27Ter