Canonical Allele Identifier: CA2299580

Gene: GLB1

Linked Data

• ClinVar Variation Id: 372371
• ClinVar RCV Id: RCV000413217 ; RCV000662341 ; RCV000805468
• dbSNP Id: rs745386663
• ExAC: 3:33093448 G / A
• gnomAD v2: 3-33093448-G-A
• gnomAD v3: 3-33051956-G-A
• gnomAD v4: 3-33051956-G-A
• MyVariant Identifiers: chr3:g.33093448G>A (hg19) ; chr3:g.33051956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051956G>A , CM000665.2:g.33051956G>A	GRCh38
NC_000003.11:g.33093448G>A , CM000665.1:g.33093448G>A	GRCh37
NC_000003.10:g.33068452G>A	NCBI36
NG_009005.1:g.50247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.841C>T MANE Select	ENSP00000306920.4:p.His281Tyr
ENST00000307363.9:c.841C>T	ENSP00000306920.4:p.His281Tyr
ENST00000307377.12:c.448C>T	ENSP00000305920.8:p.His150Tyr
ENST00000399402.7:c.751C>T	ENSP00000382333.2:p.His251Tyr
ENST00000415454.1:c.364C>T	ENSP00000411813.1:p.His122Tyr
ENST00000438227.1:c.*333C>T	ENSP00000401250.1:n.*333C>T
ENST00000446732.5:c.*284C>T	ENSP00000407365.1:n.*284C>T
ENST00000482097.5:n.216C>T
ENST00000485698.5:n.244C>T
ENST00000498537.5:n.367C>T
NM_000404.2:c.841C>T	NP_000395.2:p.His281Tyr
NM_000404.3:c.841C>T	NP_000395.2:p.His281Tyr
NM_001079811.1:c.751C>T	NP_001073279.1:p.His251Tyr
NM_001079811.2:c.751C>T	NP_001073279.1:p.His251Tyr
NM_001135602.1:c.448C>T	NP_001129074.1:p.His150Tyr
NM_001135602.2:c.448C>T	NP_001129074.1:p.His150Tyr
NM_001317040.1:c.985C>T	NP_001303969.1:p.His329Tyr
NM_000404.4:c.841C>T MANE Select	NP_000395.3:p.His281Tyr
NM_001079811.3:c.751C>T	NP_001073279.2:p.His251Tyr
NM_001135602.3:c.448C>T	NP_001129074.2:p.His150Tyr
NM_001317040.2:c.985C>T	NP_001303969.2:p.His329Tyr
NM_001393580.1:c.841C>T	NP_001380509.1:p.His281Tyr