Canonical Allele Identifier: CA432952794

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2925615
• ClinVar RCV Id: RCV003783709
• gnomAD v4: 3-33072579-C-T
• MyVariant Identifiers: chr3:g.33114071C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33072579C>T , CM000665.2:g.33072579C>T	GRCh38
NC_000003.11:g.33114071C>T , CM000665.1:g.33114071C>T	GRCh37
NC_000003.10:g.33089075C>T	NCBI36
NG_009005.1:g.29624G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.210G>A MANE Select	ENSP00000306920.4:p.Leu70=
ENST00000307363.9:c.210G>A	ENSP00000306920.4:p.Leu70=
ENST00000307377.12:c.210G>A	ENSP00000305920.8:p.Leu70=
ENST00000399402.7:c.120G>A	ENSP00000382333.2:p.Leu40=
ENST00000415454.1:c.76-14310G>A	ENSP00000411813.1:n.76-14310G>A
ENST00000436768.1:c.354G>A	ENSP00000387989.1:p.Leu118=
ENST00000438227.1:c.76-7022G>A	ENSP00000401250.1:n.76-7022G>A
ENST00000440656.1:c.-148-3609G>A	ENSP00000411769.1:n.-148-3609G>A
ENST00000446732.5:c.120G>A	ENSP00000407365.1:p.Leu40=
ENST00000450835.1:c.120G>A	ENSP00000403264.1:p.Leu40=
ENST00000464355.1:n.168G>A
ENST00000482097.5:n.109-19030G>A
ENST00000485698.5:n.137-19030G>A
ENST00000498537.5:n.133-19030G>A
NM_000404.2:c.210G>A	NP_000395.2:p.Leu70=
NM_000404.3:c.210G>A	NP_000395.2:p.Leu70=
NM_001079811.1:c.120G>A	NP_001073279.1:p.Leu40=
NM_001079811.2:c.120G>A	NP_001073279.1:p.Leu40=
NM_001135602.1:c.210G>A	NP_001129074.1:p.Leu70=
NM_001135602.2:c.210G>A	NP_001129074.1:p.Leu70=
NM_001317040.1:c.354G>A	NP_001303969.1:p.Leu118=
NM_000404.4:c.210G>A MANE Select	NP_000395.3:p.Leu70=
NM_001079811.3:c.120G>A	NP_001073279.2:p.Leu40=
NM_001135602.3:c.210G>A	NP_001129074.2:p.Leu70=
NM_001317040.2:c.354G>A	NP_001303969.2:p.Leu118=
NM_001393580.1:c.210G>A	NP_001380509.1:p.Leu70=