Canonical Allele Identifier: CA351992478

Gene: GLB1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33065534A>T , CM000665.2:g.33065534A>T	GRCh38
NC_000003.11:g.33107026A>T , CM000665.1:g.33107026A>T	GRCh37
NC_000003.10:g.33082030A>T	NCBI36
NG_009005.1:g.36669T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.481T>A MANE Select	ENSP00000306920.4:p.Trp161Arg
ENST00000307363.9:c.481T>A	ENSP00000306920.4:p.Trp161Arg
ENST00000307377.12:c.269T>A	ENSP00000305920.8:p.Val90Glu
ENST00000399402.7:c.391T>A	ENSP00000382333.2:p.Trp131Arg
ENST00000415454.1:c.76-7265T>A	ENSP00000411813.1:n.76-7265T>A
ENST00000438227.1:c.99T>A	ENSP00000401250.1:p.Ser33Arg
ENST00000440656.1:c.88T>A	ENSP00000411769.1:p.Trp30Arg
ENST00000446732.5:c.179T>A	ENSP00000407365.1:p.Val60Glu
ENST00000464355.1:n.439T>A
ENST00000482097.5:n.109-11985T>A
ENST00000485698.5:n.137-11985T>A
ENST00000498537.5:n.133-11985T>A
NM_000404.2:c.481T>A	NP_000395.2:p.Trp161Arg
NM_000404.3:c.481T>A	NP_000395.2:p.Trp161Arg
NM_001079811.1:c.391T>A	NP_001073279.1:p.Trp131Arg
NM_001079811.2:c.391T>A	NP_001073279.1:p.Trp131Arg
NM_001135602.1:c.269T>A	NP_001129074.1:p.Val90Glu
NM_001135602.2:c.269T>A	NP_001129074.1:p.Val90Glu
NM_001317040.1:c.625T>A	NP_001303969.1:p.Trp209Arg
NM_000404.4:c.481T>A MANE Select	NP_000395.3:p.Trp161Arg
NM_001079811.3:c.391T>A	NP_001073279.2:p.Trp131Arg
NM_001135602.3:c.269T>A	NP_001129074.2:p.Val90Glu
NM_001317040.2:c.625T>A	NP_001303969.2:p.Trp209Arg
NM_001393580.1:c.481T>A	NP_001380509.1:p.Trp161Arg