Canonical Allele Identifier: CA351994576

Gene: GLB1

Linked Data

• ClinVar Variation Id: 903250
• ClinVar RCV Id: RCV001150422 ; RCV001150421
• dbSNP Id: rs767916019
• gnomAD v4: 3-33068842-T-C
• MyVariant Identifiers: chr3:g.33110334T>C (hg19) ; chr3:g.33068842T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068842T>C , CM000665.2:g.33068842T>C	GRCh38
NC_000003.11:g.33110334T>C , CM000665.1:g.33110334T>C	GRCh37
NC_000003.10:g.33085338T>C	NCBI36
NG_009005.1:g.33361A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.374A>G MANE Select	ENSP00000306920.4:p.Tyr125Cys
ENST00000307363.9:c.374A>G	ENSP00000306920.4:p.Tyr125Cys
ENST00000307377.12:c.246-3285A>G	ENSP00000305920.8:n.246-3285A>G
ENST00000399402.7:c.284A>G	ENSP00000382333.2:p.Tyr95Cys
ENST00000415454.1:c.76-10573A>G	ENSP00000411813.1:n.76-10573A>G
ENST00000438227.1:c.76-3285A>G	ENSP00000401250.1:n.76-3285A>G
ENST00000440656.1:c.-20A>G	ENSP00000411769.1:n.-20A>G
ENST00000446732.5:c.156-3285A>G	ENSP00000407365.1:n.156-3285A>G
ENST00000450835.1:c.284A>G	ENSP00000403264.1:p.Tyr95Cys
ENST00000464355.1:n.332A>G
ENST00000482097.5:n.109-15293A>G
ENST00000485698.5:n.137-15293A>G
ENST00000498537.5:n.133-15293A>G
NM_000404.2:c.374A>G	NP_000395.2:p.Tyr125Cys
NM_000404.3:c.374A>G	NP_000395.2:p.Tyr125Cys
NM_001079811.1:c.284A>G	NP_001073279.1:p.Tyr95Cys
NM_001079811.2:c.284A>G	NP_001073279.1:p.Tyr95Cys
NM_001135602.1:c.246-3285A>G	NP_001129074.1:n.246-3285A>G
NM_001135602.2:c.246-3285A>G	NP_001129074.1:n.246-3285A>G
NM_001317040.1:c.518A>G	NP_001303969.1:p.Tyr173Cys
NM_000404.4:c.374A>G MANE Select	NP_000395.3:p.Tyr125Cys
NM_001079811.3:c.284A>G	NP_001073279.2:p.Tyr95Cys
NM_001135602.3:c.246-3285A>G	NP_001129074.2:n.246-3285A>G
NM_001317040.2:c.518A>G	NP_001303969.2:p.Tyr173Cys
NM_001393580.1:c.374A>G	NP_001380509.1:p.Tyr125Cys