Canonical Allele Identifier: CA432952509

Gene: GLB1

Linked Data

• ClinVar Variation Id: 1584786
• ClinVar RCV Id: RCV002102846
• dbSNP Id: rs1699791877
• COSMIC: COSM3774919 ; COSM3774920
• MyVariant Identifiers: chr3:g.33110348C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068856C>T , CM000665.2:g.33068856C>T	GRCh38
NC_000003.11:g.33110348C>T , CM000665.1:g.33110348C>T	GRCh37
NC_000003.10:g.33085352C>T	NCBI36
NG_009005.1:g.33347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.360G>A MANE Select	ENSP00000306920.4:p.Leu120=
ENST00000307363.9:c.360G>A	ENSP00000306920.4:p.Leu120=
ENST00000307377.12:c.246-3299G>A	ENSP00000305920.8:n.246-3299G>A
ENST00000399402.7:c.270G>A	ENSP00000382333.2:p.Leu90=
ENST00000415454.1:c.76-10587G>A	ENSP00000411813.1:n.76-10587G>A
ENST00000438227.1:c.76-3299G>A	ENSP00000401250.1:n.76-3299G>A
ENST00000440656.1:c.-34G>A	ENSP00000411769.1:n.-34G>A
ENST00000446732.5:c.156-3299G>A	ENSP00000407365.1:n.156-3299G>A
ENST00000450835.1:c.270G>A	ENSP00000403264.1:p.Leu90=
ENST00000464355.1:n.318G>A
ENST00000482097.5:n.109-15307G>A
ENST00000485698.5:n.137-15307G>A
ENST00000498537.5:n.133-15307G>A
NM_000404.2:c.360G>A	NP_000395.2:p.Leu120=
NM_000404.3:c.360G>A	NP_000395.2:p.Leu120=
NM_001079811.1:c.270G>A	NP_001073279.1:p.Leu90=
NM_001079811.2:c.270G>A	NP_001073279.1:p.Leu90=
NM_001135602.1:c.246-3299G>A	NP_001129074.1:n.246-3299G>A
NM_001135602.2:c.246-3299G>A	NP_001129074.1:n.246-3299G>A
NM_001317040.1:c.504G>A	NP_001303969.1:p.Leu168=
NM_000404.4:c.360G>A MANE Select	NP_000395.3:p.Leu120=
NM_001079811.3:c.270G>A	NP_001073279.2:p.Leu90=
NM_001135602.3:c.246-3299G>A	NP_001129074.2:n.246-3299G>A
NM_001317040.2:c.504G>A	NP_001303969.2:p.Leu168=
NM_001393580.1:c.360G>A	NP_001380509.1:p.Leu120=