Canonical Allele Identifier: CA114669
Gene: GLB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 947
ClinVar RCV Id: RCV000000997
dbSNP Id: rs72555373

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32997308A>T , CM000665.2:g.32997308A>T GRCh38
NC_000003.11:g.33038800A>T , CM000665.1:g.33038800A>T GRCh37
NC_000003.10:g.33013804A>T NCBI36
NG_009005.1:g.104895T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.1771T>A MANE Select ENSP00000306920.4:p.Tyr591Asn
ENST00000307363.9:c.1771T>A ENSP00000306920.4:p.Tyr591Asn
ENST00000307377.12:c.1378T>A ENSP00000305920.8:p.Tyr460Asn
ENST00000399402.7:c.1681T>A ENSP00000382333.2:p.Tyr561Asn
NM_000404.2:c.1771T>A NP_000395.2:p.Tyr591Asn
NM_000404.3:c.1771T>A NP_000395.2:p.Tyr591Asn
NM_001079811.1:c.1681T>A NP_001073279.1:p.Tyr561Asn
NM_001079811.2:c.1681T>A NP_001073279.1:p.Tyr561Asn
NM_001135602.1:c.1378T>A NP_001129074.1:p.Tyr460Asn
NM_001135602.2:c.1378T>A NP_001129074.1:p.Tyr460Asn
NM_001317040.1:c.1915T>A NP_001303969.1:p.Tyr639Asn
NM_000404.4:c.1771T>A MANE Select NP_000395.3:p.Tyr591Asn
NM_001079811.3:c.1681T>A NP_001073279.2:p.Tyr561Asn
NM_001135602.3:c.1378T>A NP_001129074.2:p.Tyr460Asn
NM_001317040.2:c.1915T>A NP_001303969.2:p.Tyr639Asn
NM_001393580.1:c.1734+16748T>A NP_001380509.1:n.1734+16748T>A