Canonical Allele Identifier: CA351994760

Gene: GLB1

Linked Data

• ClinVar Variation Id: 975402
• ClinVar RCV Id: RCV001252007
• dbSNP Id: rs1699792652
• COSMIC: COSM5952004 ; COSM5952005
• MyVariant Identifiers: chr3:g.33110374G>A (hg19) ; chr3:g.33068882G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068882G>A , CM000665.2:g.33068882G>A	GRCh38
NC_000003.11:g.33110374G>A , CM000665.1:g.33110374G>A	GRCh37
NC_000003.10:g.33085378G>A	NCBI36
NG_009005.1:g.33321C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.334C>T MANE Select	ENSP00000306920.4:p.His112Tyr
ENST00000307363.9:c.334C>T	ENSP00000306920.4:p.His112Tyr
ENST00000307377.12:c.246-3325C>T	ENSP00000305920.8:n.246-3325C>T
ENST00000399402.7:c.244C>T	ENSP00000382333.2:p.His82Tyr
ENST00000415454.1:c.76-10613C>T	ENSP00000411813.1:n.76-10613C>T
ENST00000438227.1:c.76-3325C>T	ENSP00000401250.1:n.76-3325C>T
ENST00000440656.1:c.-60C>T	ENSP00000411769.1:n.-60C>T
ENST00000446732.5:c.156-3325C>T	ENSP00000407365.1:n.156-3325C>T
ENST00000450835.1:c.244C>T	ENSP00000403264.1:p.His82Tyr
ENST00000464355.1:n.292C>T
ENST00000482097.5:n.109-15333C>T
ENST00000485698.5:n.137-15333C>T
ENST00000498537.5:n.133-15333C>T
NM_000404.2:c.334C>T	NP_000395.2:p.His112Tyr
NM_000404.3:c.334C>T	NP_000395.2:p.His112Tyr
NM_001079811.1:c.244C>T	NP_001073279.1:p.His82Tyr
NM_001079811.2:c.244C>T	NP_001073279.1:p.His82Tyr
NM_001135602.1:c.246-3325C>T	NP_001129074.1:n.246-3325C>T
NM_001135602.2:c.246-3325C>T	NP_001129074.1:n.246-3325C>T
NM_001317040.1:c.478C>T	NP_001303969.1:p.His160Tyr
NM_000404.4:c.334C>T MANE Select	NP_000395.3:p.His112Tyr
NM_001079811.3:c.244C>T	NP_001073279.2:p.His82Tyr
NM_001135602.3:c.246-3325C>T	NP_001129074.2:n.246-3325C>T
NM_001317040.2:c.478C>T	NP_001303969.2:p.His160Tyr
NM_001393580.1:c.334C>T	NP_001380509.1:p.His112Tyr