Canonical Allele Identifier: CA2299352
Gene: GLB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 450616
dbSNP Id: rs371397760

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33014202G>A , CM000665.2:g.33014202G>A GRCh38
NC_000003.11:g.33055694G>A , CM000665.1:g.33055694G>A GRCh37
NC_000003.10:g.33030698G>A NCBI36
NG_009005.1:g.88001C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307363.10:c.1588C>T MANE Select ENSP00000306920.4:p.Arg530Cys
ENST00000307363.9:c.1588C>T ENSP00000306920.4:p.Arg530Cys
ENST00000307377.12:c.1195C>T ENSP00000305920.8:p.Arg399Cys
ENST00000399402.7:c.1498C>T ENSP00000382333.2:p.Arg500Cys
ENST00000461475.5:n.687C>T
ENST00000497796.5:n.840C>T
NM_000404.2:c.1588C>T NP_000395.2:p.Arg530Cys
NM_000404.3:c.1588C>T NP_000395.2:p.Arg530Cys
NM_001079811.1:c.1498C>T NP_001073279.1:p.Arg500Cys
NM_001079811.2:c.1498C>T NP_001073279.1:p.Arg500Cys
NM_001135602.1:c.1195C>T NP_001129074.1:p.Arg399Cys
NM_001135602.2:c.1195C>T NP_001129074.1:p.Arg399Cys
NM_001317040.1:c.1732C>T NP_001303969.1:p.Arg578Cys
NM_000404.4:c.1588C>T MANE Select NP_000395.3:p.Arg530Cys
NM_001079811.3:c.1498C>T NP_001073279.2:p.Arg500Cys
NM_001135602.3:c.1195C>T NP_001129074.2:p.Arg399Cys
NM_001317040.2:c.1732C>T NP_001303969.2:p.Arg578Cys
NM_001393580.1:c.1588C>T NP_001380509.1:p.Arg530Cys