Canonical Allele Identifier: CA2989377390

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068945dup , CM000665.2:g.33068945dup	GRCh38
NC_000003.11:g.33110437dup , CM000665.1:g.33110437dup	GRCh37
NC_000003.10:g.33085441dup	NCBI36
NG_009005.1:g.33260dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.273dup MANE Select	ENSP00000306920.4:p.Trp92LeufsTer9
ENST00000307363.9:c.273dup	ENSP00000306920.4:p.Trp92LeufsTer9
ENST00000307377.12:c.246-3386dup	ENSP00000305920.8:n.246-3386dup
ENST00000399402.7:c.183dup	ENSP00000382333.2:p.Trp62LeufsTer9
ENST00000415454.1:c.76-10674dup	ENSP00000411813.1:n.76-10674dup
ENST00000436768.1:c.417dup	ENSP00000387989.1:p.Trp140LeufsTer?
ENST00000438227.1:c.76-3386dup	ENSP00000401250.1:n.76-3386dup
ENST00000440656.1:c.-121dup	ENSP00000411769.1:n.-121dup
ENST00000446732.5:c.156-3386dup	ENSP00000407365.1:n.156-3386dup
ENST00000450835.1:c.183dup	ENSP00000403264.1:p.Trp62LeufsTer9
ENST00000464355.1:n.231dup
ENST00000482097.5:n.109-15394dup
ENST00000485698.5:n.137-15394dup
ENST00000498537.5:n.133-15394dup
NM_000404.2:c.273dup	NP_000395.2:p.Trp92LeufsTer9
NM_000404.3:c.273dup	NP_000395.2:p.Trp92LeufsTer9
NM_001079811.1:c.183dup	NP_001073279.1:p.Trp62LeufsTer9
NM_001079811.2:c.183dup	NP_001073279.1:p.Trp62LeufsTer9
NM_001135602.1:c.246-3386dup	NP_001129074.1:n.246-3386dup
NM_001135602.2:c.246-3386dup	NP_001129074.1:n.246-3386dup
NM_001317040.1:c.417dup	NP_001303969.1:p.Trp140LeufsTer9
NM_000404.4:c.273dup MANE Select	NP_000395.3:p.Trp92LeufsTer9
NM_001079811.3:c.183dup	NP_001073279.2:p.Trp62LeufsTer9
NM_001135602.3:c.246-3386dup	NP_001129074.2:n.246-3386dup
NM_001317040.2:c.417dup	NP_001303969.2:p.Trp140LeufsTer9
NM_001393580.1:c.273dup	NP_001380509.1:p.Trp92LeufsTer9