Canonical Allele Identifier: CA351986041

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2174616
• ClinVar RCV Id: RCV002588021
• gnomAD v4: 3-33014205-G-A
• MyVariant Identifiers: chr3:g.33055697G>A (hg19) ; chr3:g.33014205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014205G>A , CM000665.2:g.33014205G>A	GRCh38
NC_000003.11:g.33055697G>A , CM000665.1:g.33055697G>A	GRCh37
NC_000003.10:g.33030701G>A	NCBI36
NG_009005.1:g.87998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1585C>T MANE Select	ENSP00000306920.4:p.His529Tyr
ENST00000307363.9:c.1585C>T	ENSP00000306920.4:p.His529Tyr
ENST00000307377.12:c.1192C>T	ENSP00000305920.8:p.His398Tyr
ENST00000399402.7:c.1495C>T	ENSP00000382333.2:p.His499Tyr
ENST00000461475.5:n.684C>T
ENST00000497796.5:n.837C>T
NM_000404.2:c.1585C>T	NP_000395.2:p.His529Tyr
NM_000404.3:c.1585C>T	NP_000395.2:p.His529Tyr
NM_001079811.1:c.1495C>T	NP_001073279.1:p.His499Tyr
NM_001079811.2:c.1495C>T	NP_001073279.1:p.His499Tyr
NM_001135602.1:c.1192C>T	NP_001129074.1:p.His398Tyr
NM_001135602.2:c.1192C>T	NP_001129074.1:p.His398Tyr
NM_001317040.1:c.1729C>T	NP_001303969.1:p.His577Tyr
NM_000404.4:c.1585C>T MANE Select	NP_000395.3:p.His529Tyr
NM_001079811.3:c.1495C>T	NP_001073279.2:p.His499Tyr
NM_001135602.3:c.1192C>T	NP_001129074.2:p.His398Tyr
NM_001317040.2:c.1729C>T	NP_001303969.2:p.His577Tyr
NM_001393580.1:c.1585C>T	NP_001380509.1:p.His529Tyr