Canonical Allele Identifier: CA114634

Gene: GLB1

Linked Data

• ClinVar Variation Id: 926
• ClinVar RCV Id: RCV000000974 ; RCV000671053 ; RCV001582457 ; RCV001851520
• dbSNP Id: rs72555390
• gnomAD v3: 3-33072637-A-G
• gnomAD v4: 3-33072637-A-G
• MyVariant Identifiers: chr3:g.33114129A>G (hg19) ; chr3:g.33072637A>G (hg38)
• PubMed: PMID:1353343 ; PMID:1907800 ; PMID:1909089

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33072637A>G , CM000665.2:g.33072637A>G	GRCh38
NC_000003.11:g.33114129A>G , CM000665.1:g.33114129A>G	GRCh37
NC_000003.10:g.33089133A>G	NCBI36
NG_009005.1:g.29566T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.152T>C MANE Select	ENSP00000306920.4:p.Ile51Thr
ENST00000307363.9:c.152T>C	ENSP00000306920.4:p.Ile51Thr
ENST00000307377.12:c.152T>C	ENSP00000305920.8:p.Ile51Thr
ENST00000399402.7:c.62T>C	ENSP00000382333.2:p.Ile21Thr
ENST00000415454.1:c.76-14368T>C	ENSP00000411813.1:n.76-14368T>C
ENST00000436768.1:c.296T>C	ENSP00000387989.1:p.Ile99Thr
ENST00000438227.1:c.76-7080T>C	ENSP00000401250.1:n.76-7080T>C
ENST00000440656.1:c.-148-3667T>C	ENSP00000411769.1:n.-148-3667T>C
ENST00000446732.5:c.62T>C	ENSP00000407365.1:p.Ile21Thr
ENST00000450835.1:c.62T>C	ENSP00000403264.1:p.Ile21Thr
ENST00000464355.1:n.110T>C
ENST00000482097.5:n.109-19088T>C
ENST00000485698.5:n.137-19088T>C
ENST00000498537.5:n.133-19088T>C
NM_000404.2:c.152T>C	NP_000395.2:p.Ile51Thr
NM_000404.3:c.152T>C	NP_000395.2:p.Ile51Thr
NM_001079811.1:c.62T>C	NP_001073279.1:p.Ile21Thr
NM_001079811.2:c.62T>C	NP_001073279.1:p.Ile21Thr
NM_001135602.1:c.152T>C	NP_001129074.1:p.Ile51Thr
NM_001135602.2:c.152T>C	NP_001129074.1:p.Ile51Thr
NM_001317040.1:c.296T>C	NP_001303969.1:p.Ile99Thr
NM_000404.4:c.152T>C MANE Select	NP_000395.3:p.Ile51Thr
NM_001079811.3:c.62T>C	NP_001073279.2:p.Ile21Thr
NM_001135602.3:c.152T>C	NP_001129074.2:p.Ile51Thr
NM_001317040.2:c.296T>C	NP_001303969.2:p.Ile99Thr
NM_001393580.1:c.152T>C	NP_001380509.1:p.Ile51Thr