Canonical Allele Identifier: CA114656

Gene: GLB1

Linked Data

• ClinVar Variation Id: 940
• ClinVar RCV Id: RCV000000989 ; RCV000850556 ; RCV001091796 ; RCV001382999 ; RCV001843450
• dbSNP Id: rs72555367
• gnomAD v4: 3-33018482-C-T
• MyVariant Identifiers: chr3:g.33059974C>T (hg19) ; chr3:g.33018482C>T (hg38)
• PubMed: PMID:10841810

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33018482C>T , CM000665.2:g.33018482C>T	GRCh38
NC_000003.11:g.33059974C>T , CM000665.1:g.33059974C>T	GRCh37
NC_000003.10:g.33034978C>T	NCBI36
NG_009005.1:g.83721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1313G>A MANE Select	ENSP00000306920.4:p.Gly438Glu
ENST00000307363.9:c.1313G>A	ENSP00000306920.4:p.Gly438Glu
ENST00000307377.12:c.920G>A	ENSP00000305920.8:p.Gly307Glu
ENST00000399402.7:c.1223G>A	ENSP00000382333.2:p.Gly408Glu
ENST00000461475.5:n.412G>A
ENST00000467571.5:n.350G>A
ENST00000497796.5:n.565G>A
NM_000404.2:c.1313G>A	NP_000395.2:p.Gly438Glu
NM_000404.3:c.1313G>A	NP_000395.2:p.Gly438Glu
NM_001079811.1:c.1223G>A	NP_001073279.1:p.Gly408Glu
NM_001079811.2:c.1223G>A	NP_001073279.1:p.Gly408Glu
NM_001135602.1:c.920G>A	NP_001129074.1:p.Gly307Glu
NM_001135602.2:c.920G>A	NP_001129074.1:p.Gly307Glu
NM_001317040.1:c.1457G>A	NP_001303969.1:p.Gly486Glu
NM_000404.4:c.1313G>A MANE Select	NP_000395.3:p.Gly438Glu
NM_001079811.3:c.1223G>A	NP_001073279.2:p.Gly408Glu
NM_001135602.3:c.920G>A	NP_001129074.2:p.Gly307Glu
NM_001317040.2:c.1457G>A	NP_001303969.2:p.Gly486Glu
NM_001393580.1:c.1313G>A	NP_001380509.1:p.Gly438Glu