Canonical Allele Identifier: CA72670809

Gene: GLB1

Linked Data

• ClinVar Variation Id: 800730
• ClinVar RCV Id: RCV000984877
• dbSNP Id: rs886042079
• gnomAD v2: 3-33110323-C-G
• gnomAD v4: 3-33068831-C-G
• MyVariant Identifiers: chr3:g.33110323C>G (hg19) ; chr3:g.33068831C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068831C>G , CM000665.2:g.33068831C>G	GRCh38
NC_000003.11:g.33110323C>G , CM000665.1:g.33110323C>G	GRCh37
NC_000003.10:g.33085327C>G	NCBI36
NG_009005.1:g.33372G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.385G>C MANE Select	ENSP00000306920.4:p.Glu129Gln
ENST00000307363.9:c.385G>C	ENSP00000306920.4:p.Glu129Gln
ENST00000307377.12:c.246-3274G>C	ENSP00000305920.8:n.246-3274G>C
ENST00000399402.7:c.295G>C	ENSP00000382333.2:p.Glu99Gln
ENST00000415454.1:c.76-10562G>C	ENSP00000411813.1:n.76-10562G>C
ENST00000438227.1:c.76-3274G>C	ENSP00000401250.1:n.76-3274G>C
ENST00000440656.1:c.-9G>C	ENSP00000411769.1:n.-9G>C
ENST00000446732.5:c.156-3274G>C	ENSP00000407365.1:n.156-3274G>C
ENST00000450835.1:c.295G>C	ENSP00000403264.1:p.Glu99Gln
ENST00000464355.1:n.343G>C
ENST00000482097.5:n.109-15282G>C
ENST00000485698.5:n.137-15282G>C
ENST00000498537.5:n.133-15282G>C
NM_000404.2:c.385G>C	NP_000395.2:p.Glu129Gln
NM_000404.3:c.385G>C	NP_000395.2:p.Glu129Gln
NM_001079811.1:c.295G>C	NP_001073279.1:p.Glu99Gln
NM_001079811.2:c.295G>C	NP_001073279.1:p.Glu99Gln
NM_001135602.1:c.246-3274G>C	NP_001129074.1:n.246-3274G>C
NM_001135602.2:c.246-3274G>C	NP_001129074.1:n.246-3274G>C
NM_001317040.1:c.529G>C	NP_001303969.1:p.Glu177Gln
NM_000404.4:c.385G>C MANE Select	NP_000395.3:p.Glu129Gln
NM_001079811.3:c.295G>C	NP_001073279.2:p.Glu99Gln
NM_001135602.3:c.246-3274G>C	NP_001129074.2:n.246-3274G>C
NM_001317040.2:c.529G>C	NP_001303969.2:p.Glu177Gln
NM_001393580.1:c.385G>C	NP_001380509.1:p.Glu129Gln