Canonical Allele Identifier: CA203855

Gene: GLB1

Linked Data

• ClinVar Variation Id: 202191
• ClinVar RCV Id: RCV000184037 ; RCV000627406 ; RCV000784901 ; RCV000798976 ; RCV000987139 ; RCV001260322 ; RCV003137707
• dbSNP Id: rs794729217
• gnomAD v2: 3-33055704-G-GC
• gnomAD v3: 3-33014212-G-GC
• gnomAD v4: 3-33014212-G-GC
• MyVariant Identifiers: chr3:g.33055705dup (hg19) ; chr3:g.33055710dupC (hg19) ; chr3:g.33055705_33055706insC (hg19) ; chr3:g.33055704_33055705insC (hg19) ; chr3:g.33014218dupC (hg38) ; chr3:g.33014213_33014214insC (hg38) ; chr3:g.33014212_33014213insC (hg38)
• PubMed: PMID:10338095 ; PMID:15986423 ; PMID:24156116

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014218dup , CM000665.2:g.33014218dup	GRCh38
NC_000003.11:g.33055710dup , CM000665.1:g.33055710dup	GRCh37
NC_000003.10:g.33030714dup	NCBI36
NG_009005.1:g.87990dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1577dup MANE Select	ENSP00000306920.4:p.Trp527LeufsTer5
ENST00000307363.9:c.1577dup	ENSP00000306920.4:p.Trp527LeufsTer5
ENST00000307377.12:c.1184dup	ENSP00000305920.8:p.Trp396LeufsTer5
ENST00000399402.7:c.1487dup	ENSP00000382333.2:p.Trp497LeufsTer5
ENST00000461475.5:n.676dup
ENST00000497796.5:n.829dup
NM_000404.2:c.1577dup	NP_000395.2:p.Trp527LeufsTer5
NM_000404.3:c.1577dup	NP_000395.2:p.Trp527LeufsTer5
NM_001079811.1:c.1487dup	NP_001073279.1:p.Trp497LeufsTer5
NM_001079811.2:c.1487dup	NP_001073279.1:p.Trp497LeufsTer5
NM_001135602.1:c.1184dup	NP_001129074.1:p.Trp396LeufsTer5
NM_001135602.2:c.1184dup	NP_001129074.1:p.Trp396LeufsTer5
NM_001317040.1:c.1721dup	NP_001303969.1:p.Trp575LeufsTer5
NM_000404.4:c.1577dup MANE Select	NP_000395.3:p.Trp527LeufsTer5
NM_001079811.3:c.1487dup	NP_001073279.2:p.Trp497LeufsTer5
NM_001135602.3:c.1184dup	NP_001129074.2:p.Trp396LeufsTer5
NM_001317040.2:c.1721dup	NP_001303969.2:p.Trp575LeufsTer5
NM_001393580.1:c.1577dup	NP_001380509.1:p.Trp527LeufsTer5