Canonical Allele Identifier: CA351992475

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33065533C>T , CM000665.2:g.33065533C>T	GRCh38
NC_000003.11:g.33107025C>T , CM000665.1:g.33107025C>T	GRCh37
NC_000003.10:g.33082029C>T	NCBI36
NG_009005.1:g.36670G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.482G>A MANE Select	NP_000395.3:p.Trp161Ter
ENST00000307363.10:c.482G>A MANE Select	ENSP00000306920.4:p.Trp161Ter
NM_000404.2:c.482G>A	NP_000395.2:p.Trp161Ter
NM_000404.3:c.482G>A	NP_000395.2:p.Trp161Ter
NM_001079811.1:c.392G>A	NP_001073279.1:p.Trp131Ter
NM_001079811.2:c.392G>A	NP_001073279.1:p.Trp131Ter
NM_001079811.3:c.392G>A	NP_001073279.2:p.Trp131Ter
NM_001135602.1:c.270G>A	NP_001129074.1:p.Val90=
NM_001135602.2:c.270G>A	NP_001129074.1:p.Val90=
NM_001135602.3:c.270G>A	NP_001129074.2:p.Val90=
NM_001317040.1:c.626G>A	NP_001303969.1:p.Trp209Ter
NM_001317040.2:c.626G>A	NP_001303969.2:p.Trp209Ter
NM_001393580.1:c.482G>A	NP_001380509.1:p.Trp161Ter
ENST00000307363.9:c.482G>A	ENSP00000306920.4:p.Trp161Ter
ENST00000307377.12:c.270G>A	ENSP00000305920.8:p.Val90=
ENST00000399402.7:c.392G>A	ENSP00000382333.2:p.Trp131Ter
ENST00000415454.1:c.76-7264G>A	ENSP00000411813.1:n.76-7264G>A
ENST00000438227.1:c.100G>A	ENSP00000401250.1:p.Gly34Ser
ENST00000440656.1:c.89G>A	ENSP00000411769.1:p.Trp30Ter
ENST00000446732.5:c.180G>A	ENSP00000407365.1:p.Val60=
ENST00000464355.1:n.440G>A
ENST00000482097.5:n.109-11984G>A
ENST00000485698.5:n.137-11984G>A
ENST00000498537.5:n.133-11984G>A