Canonical Allele Identifier: CA145200

Gene: GLB1

Linked Data

• ClinVar Variation Id: 68479
• ClinVar RCV Id: RCV000059352 ; RCV000541694
• dbSNP Id: rs397515617
• gnomAD v4: 3-33065497-A-G
• MyVariant Identifiers: chr3:g.33106989A>G (hg19) ; chr3:g.33065497A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33065497A>G , CM000665.2:g.33065497A>G	GRCh38
NC_000003.11:g.33106989A>G , CM000665.1:g.33106989A>G	GRCh37
NC_000003.10:g.33081993A>G	NCBI36
NG_009005.1:g.36706T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.518T>C MANE Select	ENSP00000306920.4:p.Leu173Pro
ENST00000307363.9:c.518T>C	ENSP00000306920.4:p.Leu173Pro
ENST00000307377.12:c.306T>C	ENSP00000305920.8:p.Pro102=
ENST00000399402.7:c.428T>C	ENSP00000382333.2:p.Leu143Pro
ENST00000415454.1:c.76-7228T>C	ENSP00000411813.1:n.76-7228T>C
ENST00000438227.1:c.*10T>C	ENSP00000401250.1:n.*10T>C
ENST00000440656.1:c.125T>C	ENSP00000411769.1:p.Leu42Pro
ENST00000446732.5:c.216T>C	ENSP00000407365.1:p.Pro72=
ENST00000464355.1:n.476T>C
ENST00000482097.5:n.109-11948T>C
ENST00000485698.5:n.137-11948T>C
ENST00000498537.5:n.133-11948T>C
NM_000404.2:c.518T>C	NP_000395.2:p.Leu173Pro
NM_000404.3:c.518T>C	NP_000395.2:p.Leu173Pro
NM_001079811.1:c.428T>C	NP_001073279.1:p.Leu143Pro
NM_001079811.2:c.428T>C	NP_001073279.1:p.Leu143Pro
NM_001135602.1:c.306T>C	NP_001129074.1:p.Pro102=
NM_001135602.2:c.306T>C	NP_001129074.1:p.Pro102=
NM_001317040.1:c.662T>C	NP_001303969.1:p.Leu221Pro
NM_000404.4:c.518T>C MANE Select	NP_000395.3:p.Leu173Pro
NM_001079811.3:c.428T>C	NP_001073279.2:p.Leu143Pro
NM_001135602.3:c.306T>C	NP_001129074.2:p.Pro102=
NM_001317040.2:c.662T>C	NP_001303969.2:p.Leu221Pro
NM_001393580.1:c.518T>C	NP_001380509.1:p.Leu173Pro