Canonical Allele Identifier: CA114654
Gene: GLB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 939
ClinVar RCV Id: RCV000000988 RCV000179306 RCV000586182 RCV000633470 RCV000984269 RCV000984270 RCV000984271 RCV002512629
dbSNP Id: rs72555366
ExAC: 3:33099692 G / A
gnomAD v2: 3-33099692-G-A
gnomAD v3: 3-33058200-G-A
gnomAD v4: 3-33058200-G-A
MyVariant Identifiers: chr3:g.33099692G>A (hg19) chr3:g.33058200G>A (hg38)
PubMed: PMID:8213816 PMID:8652017 PMID:17309651 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33058200G>A , CM000665.2:g.33058200G>A GRCh38
NC_000003.11:g.33099692G>A , CM000665.1:g.33099692G>A GRCh37
NC_000003.10:g.33074696G>A NCBI36
NG_009005.1:g.44003C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.622C>T MANE Select ENSP00000306920.4:p.Arg208Cys
ENST00000307363.9:c.622C>T ENSP00000306920.4:p.Arg208Cys
ENST00000307377.12:c.341-4651C>T ENSP00000305920.8:n.341-4651C>T
ENST00000399402.7:c.532C>T ENSP00000382333.2:p.Arg178Cys
ENST00000415454.1:c.145C>T ENSP00000411813.1:p.Arg49Cys
ENST00000438227.1:c.*114C>T ENSP00000401250.1:n.*114C>T
ENST00000440656.1:c.229C>T ENSP00000411769.1:p.Arg77Cys
ENST00000446732.5:c.*65C>T ENSP00000407365.1:n.*65C>T
ENST00000482097.5:n.109-4651C>T
ENST00000485698.5:n.137-4651C>T
ENST00000498537.5:n.133-4651C>T
NM_000404.2:c.622C>T NP_000395.2:p.Arg208Cys
NM_000404.3:c.622C>T NP_000395.2:p.Arg208Cys
NM_001079811.1:c.532C>T NP_001073279.1:p.Arg178Cys
NM_001079811.2:c.532C>T NP_001073279.1:p.Arg178Cys
NM_001135602.1:c.341-4651C>T NP_001129074.1:n.341-4651C>T
NM_001135602.2:c.341-4651C>T NP_001129074.1:n.341-4651C>T
NM_001317040.1:c.766C>T NP_001303969.1:p.Arg256Cys
NM_000404.4:c.622C>T MANE Select NP_000395.3:p.Arg208Cys
NM_001079811.3:c.532C>T NP_001073279.2:p.Arg178Cys
NM_001135602.3:c.341-4651C>T NP_001129074.2:n.341-4651C>T
NM_001317040.2:c.766C>T NP_001303969.2:p.Arg256Cys
NM_001393580.1:c.622C>T NP_001380509.1:p.Arg208Cys
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