Canonical Allele Identifier: CA1356003830

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058200G= , CM000665.2:g.33058200G=	GRCh38
NC_000003.11:g.33099692G= , CM000665.1:g.33099692G=	GRCh37
NC_000003.10:g.33074696G=	NCBI36
NG_009005.1:g.44003C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.622C= MANE Select	NP_000395.3:p.Arg208=
ENST00000307363.10:c.622C= MANE Select	ENSP00000306920.4:p.Arg208=
NM_000404.2:c.622C=	NP_000395.2:p.Arg208=
NM_000404.3:c.622C=	NP_000395.2:p.Arg208=
NM_001079811.1:c.532C=	NP_001073279.1:p.Arg178=
NM_001079811.2:c.532C=	NP_001073279.1:p.Arg178=
NM_001079811.3:c.532C=	NP_001073279.2:p.Arg178=
NM_001135602.1:c.341-4651C=	NP_001129074.1:n.341-4651C=
NM_001135602.2:c.341-4651C=	NP_001129074.1:n.341-4651C=
NM_001135602.3:c.341-4651C=	NP_001129074.2:n.341-4651C=
NM_001317040.1:c.766C=	NP_001303969.1:p.Arg256=
NM_001317040.2:c.766C=	NP_001303969.2:p.Arg256=
NM_001393580.1:c.622C=	NP_001380509.1:p.Arg208=
ENST00000307363.9:c.622C=	ENSP00000306920.4:p.Arg208=
ENST00000307377.12:c.341-4651C=	ENSP00000305920.8:n.341-4651C=
ENST00000399402.7:c.532C=	ENSP00000382333.2:p.Arg178=
ENST00000415454.1:c.145C=	ENSP00000411813.1:p.Arg49=
ENST00000438227.1:c.*114C=	ENSP00000401250.1:n.*114C=
ENST00000440656.1:c.229C=	ENSP00000411769.1:p.Arg77=
ENST00000446732.5:c.*65C=	ENSP00000407365.1:n.*65C=
ENST00000482097.5:n.109-4651C=
ENST00000485698.5:n.137-4651C=
ENST00000498537.5:n.133-4651C=