Canonical Allele Identifier: CA1356001066

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051989A= , CM000665.2:g.33051989A=	GRCh38
NC_000003.11:g.33093481A= , CM000665.1:g.33093481A=	GRCh37
NC_000003.10:g.33068485A=	NCBI36
NG_009005.1:g.50214T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.808T= MANE Select	NP_000395.3:p.Tyr270=
ENST00000307363.10:c.808T= MANE Select	ENSP00000306920.4:p.Tyr270=
NM_000404.2:c.808T=	NP_000395.2:p.Tyr270=
NM_000404.3:c.808T=	NP_000395.2:p.Tyr270=
NM_001079811.1:c.718T=	NP_001073279.1:p.Tyr240=
NM_001079811.2:c.718T=	NP_001073279.1:p.Tyr240=
NM_001079811.3:c.718T=	NP_001073279.2:p.Tyr240=
NM_001135602.1:c.415T=	NP_001129074.1:p.Tyr139=
NM_001135602.2:c.415T=	NP_001129074.1:p.Tyr139=
NM_001135602.3:c.415T=	NP_001129074.2:p.Tyr139=
NM_001317040.1:c.952T=	NP_001303969.1:p.Tyr318=
NM_001317040.2:c.952T=	NP_001303969.2:p.Tyr318=
NM_001393580.1:c.808T=	NP_001380509.1:p.Tyr270=
ENST00000307363.9:c.808T=	ENSP00000306920.4:p.Tyr270=
ENST00000307377.12:c.415T=	ENSP00000305920.8:p.Tyr139=
ENST00000399402.7:c.718T=	ENSP00000382333.2:p.Tyr240=
ENST00000415454.1:c.331T=	ENSP00000411813.1:p.Tyr111=
ENST00000438227.1:c.*300T=	ENSP00000401250.1:n.*300T=
ENST00000446732.5:c.*251T=	ENSP00000407365.1:n.*251T=
ENST00000482097.5:n.183T=
ENST00000485698.5:n.211T=
ENST00000498537.5:n.334T=