Canonical Allele Identifier: CA352001711

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051995C>G , CM000665.2:g.33051995C>G	GRCh38
NC_000003.11:g.33093487C>G , CM000665.1:g.33093487C>G	GRCh37
NC_000003.10:g.33068491C>G	NCBI36
NG_009005.1:g.50208G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.802G>C MANE Select	NP_000395.3:p.Glu268Gln
ENST00000307363.10:c.802G>C MANE Select	ENSP00000306920.4:p.Glu268Gln
NM_000404.2:c.802G>C	NP_000395.2:p.Glu268Gln
NM_000404.3:c.802G>C	NP_000395.2:p.Glu268Gln
NM_001079811.1:c.712G>C	NP_001073279.1:p.Glu238Gln
NM_001079811.2:c.712G>C	NP_001073279.1:p.Glu238Gln
NM_001079811.3:c.712G>C	NP_001073279.2:p.Glu238Gln
NM_001135602.1:c.409G>C	NP_001129074.1:p.Glu137Gln
NM_001135602.2:c.409G>C	NP_001129074.1:p.Glu137Gln
NM_001135602.3:c.409G>C	NP_001129074.2:p.Glu137Gln
NM_001317040.1:c.946G>C	NP_001303969.1:p.Glu316Gln
NM_001317040.2:c.946G>C	NP_001303969.2:p.Glu316Gln
NM_001393580.1:c.802G>C	NP_001380509.1:p.Glu268Gln
ENST00000307363.9:c.802G>C	ENSP00000306920.4:p.Glu268Gln
ENST00000307377.12:c.409G>C	ENSP00000305920.8:p.Glu137Gln
ENST00000399402.7:c.712G>C	ENSP00000382333.2:p.Glu238Gln
ENST00000415454.1:c.325G>C	ENSP00000411813.1:p.Glu109Gln
ENST00000438227.1:c.*294G>C	ENSP00000401250.1:n.*294G>C
ENST00000446732.5:c.*245G>C	ENSP00000407365.1:n.*245G>C
ENST00000482097.5:n.177G>C
ENST00000485698.5:n.205G>C
ENST00000498537.5:n.328G>C