Canonical Allele Identifier: CA145198

Gene: GLB1

Linked Data

• ClinVar Variation Id: 68478
• ClinVar RCV Id: RCV000059351 ; RCV000623339 ; RCV003764741
• dbSNP Id: rs397515616
• gnomAD v2: 3-33110389-A-G
• gnomAD v4: 3-33068897-A-G
• MyVariant Identifiers: chr3:g.33110389A>G (hg19) ; chr3:g.33068897A>G (hg38)
• PubMed: PMID:8198123 ; PMID:11511921 ; PMID:19472408 ; PMID:20175788 ; PMID:25936995 ; PMID:26646981 ; PMID:26766614

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068897A>G , CM000665.2:g.33068897A>G	GRCh38
NC_000003.11:g.33110389A>G , CM000665.1:g.33110389A>G	GRCh37
NC_000003.10:g.33085393A>G	NCBI36
NG_009005.1:g.33306T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.319T>C MANE Select	ENSP00000306920.4:p.Phe107Leu
ENST00000307363.9:c.319T>C	ENSP00000306920.4:p.Phe107Leu
ENST00000307377.12:c.246-3340T>C	ENSP00000305920.8:n.246-3340T>C
ENST00000399402.7:c.229T>C	ENSP00000382333.2:p.Phe77Leu
ENST00000415454.1:c.76-10628T>C	ENSP00000411813.1:n.76-10628T>C
ENST00000438227.1:c.76-3340T>C	ENSP00000401250.1:n.76-3340T>C
ENST00000440656.1:c.-75T>C	ENSP00000411769.1:n.-75T>C
ENST00000446732.5:c.156-3340T>C	ENSP00000407365.1:n.156-3340T>C
ENST00000450835.1:c.229T>C	ENSP00000403264.1:p.Phe77Leu
ENST00000464355.1:n.277T>C
ENST00000482097.5:n.109-15348T>C
ENST00000485698.5:n.137-15348T>C
ENST00000498537.5:n.133-15348T>C
NM_000404.2:c.319T>C	NP_000395.2:p.Phe107Leu
NM_000404.3:c.319T>C	NP_000395.2:p.Phe107Leu
NM_001079811.1:c.229T>C	NP_001073279.1:p.Phe77Leu
NM_001079811.2:c.229T>C	NP_001073279.1:p.Phe77Leu
NM_001135602.1:c.246-3340T>C	NP_001129074.1:n.246-3340T>C
NM_001135602.2:c.246-3340T>C	NP_001129074.1:n.246-3340T>C
NM_001317040.1:c.463T>C	NP_001303969.1:p.Phe155Leu
NM_000404.4:c.319T>C MANE Select	NP_000395.3:p.Phe107Leu
NM_001079811.3:c.229T>C	NP_001073279.2:p.Phe77Leu
NM_001135602.3:c.246-3340T>C	NP_001129074.2:n.246-3340T>C
NM_001317040.2:c.463T>C	NP_001303969.2:p.Phe155Leu
NM_001393580.1:c.319T>C	NP_001380509.1:p.Phe107Leu