Canonical Allele Identifier: CA351994216

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068271A>T , CM000665.2:g.33068271A>T	GRCh38
NC_000003.11:g.33109763A>T , CM000665.1:g.33109763A>T	GRCh37
NC_000003.10:g.33084767A>T	NCBI36
NG_009005.1:g.33932T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.416T>A MANE Select	NP_000395.3:p.Leu139Gln
ENST00000307363.10:c.416T>A MANE Select	ENSP00000306920.4:p.Leu139Gln
NM_000404.2:c.416T>A	NP_000395.2:p.Leu139Gln
NM_000404.3:c.416T>A	NP_000395.2:p.Leu139Gln
NM_001079811.1:c.326T>A	NP_001073279.1:p.Leu109Gln
NM_001079811.2:c.326T>A	NP_001073279.1:p.Leu109Gln
NM_001079811.3:c.326T>A	NP_001073279.2:p.Leu109Gln
NM_001135602.1:c.246-2714T>A	NP_001129074.1:n.246-2714T>A
NM_001135602.2:c.246-2714T>A	NP_001129074.1:n.246-2714T>A
NM_001135602.3:c.246-2714T>A	NP_001129074.2:n.246-2714T>A
NM_001317040.1:c.560T>A	NP_001303969.1:p.Leu187Gln
NM_001317040.2:c.560T>A	NP_001303969.2:p.Leu187Gln
NM_001393580.1:c.416T>A	NP_001380509.1:p.Leu139Gln
ENST00000307363.9:c.416T>A	ENSP00000306920.4:p.Leu139Gln
ENST00000307377.12:c.246-2714T>A	ENSP00000305920.8:n.246-2714T>A
ENST00000399402.7:c.326T>A	ENSP00000382333.2:p.Leu109Gln
ENST00000415454.1:c.76-10002T>A	ENSP00000411813.1:n.76-10002T>A
ENST00000438227.1:c.76-2714T>A	ENSP00000401250.1:n.76-2714T>A
ENST00000440656.1:c.23T>A	ENSP00000411769.1:p.Leu8Gln
ENST00000446732.5:c.156-2714T>A	ENSP00000407365.1:n.156-2714T>A
ENST00000464355.1:n.374T>A
ENST00000482097.5:n.109-14722T>A
ENST00000485698.5:n.137-14722T>A
ENST00000498537.5:n.133-14722T>A