Canonical Allele Identifier: CA432952567

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2946577
• ClinVar RCV Id: RCV003808815
• gnomAD v4: 3-33068898-A-G
• MyVariant Identifiers: chr3:g.33110390A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068898A>G , CM000665.2:g.33068898A>G	GRCh38
NC_000003.11:g.33110390A>G , CM000665.1:g.33110390A>G	GRCh37
NC_000003.10:g.33085394A>G	NCBI36
NG_009005.1:g.33305T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.318T>C MANE Select	ENSP00000306920.4:p.Tyr106=
ENST00000307363.9:c.318T>C	ENSP00000306920.4:p.Tyr106=
ENST00000307377.12:c.246-3341T>C	ENSP00000305920.8:n.246-3341T>C
ENST00000399402.7:c.228T>C	ENSP00000382333.2:p.Tyr76=
ENST00000415454.1:c.76-10629T>C	ENSP00000411813.1:n.76-10629T>C
ENST00000438227.1:c.76-3341T>C	ENSP00000401250.1:n.76-3341T>C
ENST00000440656.1:c.-76T>C	ENSP00000411769.1:n.-76T>C
ENST00000446732.5:c.156-3341T>C	ENSP00000407365.1:n.156-3341T>C
ENST00000450835.1:c.228T>C	ENSP00000403264.1:p.Tyr76=
ENST00000464355.1:n.276T>C
ENST00000482097.5:n.109-15349T>C
ENST00000485698.5:n.137-15349T>C
ENST00000498537.5:n.133-15349T>C
NM_000404.2:c.318T>C	NP_000395.2:p.Tyr106=
NM_000404.3:c.318T>C	NP_000395.2:p.Tyr106=
NM_001079811.1:c.228T>C	NP_001073279.1:p.Tyr76=
NM_001079811.2:c.228T>C	NP_001073279.1:p.Tyr76=
NM_001135602.1:c.246-3341T>C	NP_001129074.1:n.246-3341T>C
NM_001135602.2:c.246-3341T>C	NP_001129074.1:n.246-3341T>C
NM_001317040.1:c.462T>C	NP_001303969.1:p.Tyr154=
NM_000404.4:c.318T>C MANE Select	NP_000395.3:p.Tyr106=
NM_001079811.3:c.228T>C	NP_001073279.2:p.Tyr76=
NM_001135602.3:c.246-3341T>C	NP_001129074.2:n.246-3341T>C
NM_001317040.2:c.462T>C	NP_001303969.2:p.Tyr154=
NM_001393580.1:c.318T>C	NP_001380509.1:p.Tyr106=