Canonical Allele Identifier: CA2299775

Gene: GLB1

Linked Data

• ClinVar Variation Id: 496895
• ClinVar RCV Id: RCV000597388 ; RCV000669165 ; RCV001050379 ; RCV000987141 ; RCV002245028
• dbSNP Id: rs756878418
• ExAC: 3:33114106 G / A
• gnomAD v2: 3-33114106-G-A
• gnomAD v3: 3-33072614-G-A
• gnomAD v4: 3-33072614-G-A
• COSMIC: COSM3915763 ; COSM3915764
• MyVariant Identifiers: chr3:g.33114106G>A (hg19) ; chr3:g.33072614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33072614G>A , CM000665.2:g.33072614G>A	GRCh38
NC_000003.11:g.33114106G>A , CM000665.1:g.33114106G>A	GRCh37
NC_000003.10:g.33089110G>A	NCBI36
NG_009005.1:g.29589C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.175C>T MANE Select	ENSP00000306920.4:p.Arg59Cys
ENST00000307363.9:c.175C>T	ENSP00000306920.4:p.Arg59Cys
ENST00000307377.12:c.175C>T	ENSP00000305920.8:p.Arg59Cys
ENST00000399402.7:c.85C>T	ENSP00000382333.2:p.Arg29Cys
ENST00000415454.1:c.76-14345C>T	ENSP00000411813.1:n.76-14345C>T
ENST00000436768.1:c.319C>T	ENSP00000387989.1:p.Arg107Cys
ENST00000438227.1:c.76-7057C>T	ENSP00000401250.1:n.76-7057C>T
ENST00000440656.1:c.-148-3644C>T	ENSP00000411769.1:n.-148-3644C>T
ENST00000446732.5:c.85C>T	ENSP00000407365.1:p.Arg29Cys
ENST00000450835.1:c.85C>T	ENSP00000403264.1:p.Arg29Cys
ENST00000464355.1:n.133C>T
ENST00000482097.5:n.109-19065C>T
ENST00000485698.5:n.137-19065C>T
ENST00000498537.5:n.133-19065C>T
NM_000404.2:c.175C>T	NP_000395.2:p.Arg59Cys
NM_000404.3:c.175C>T	NP_000395.2:p.Arg59Cys
NM_001079811.1:c.85C>T	NP_001073279.1:p.Arg29Cys
NM_001079811.2:c.85C>T	NP_001073279.1:p.Arg29Cys
NM_001135602.1:c.175C>T	NP_001129074.1:p.Arg59Cys
NM_001135602.2:c.175C>T	NP_001129074.1:p.Arg59Cys
NM_001317040.1:c.319C>T	NP_001303969.1:p.Arg107Cys
NM_000404.4:c.175C>T MANE Select	NP_000395.3:p.Arg59Cys
NM_001079811.3:c.85C>T	NP_001073279.2:p.Arg29Cys
NM_001135602.3:c.175C>T	NP_001129074.2:p.Arg59Cys
NM_001317040.2:c.319C>T	NP_001303969.2:p.Arg107Cys
NM_001393580.1:c.175C>T	NP_001380509.1:p.Arg59Cys