Canonical Allele Identifier: CA10615631

Gene: GLB1

Linked Data

• ClinVar Variation Id: 344794
• ClinVar RCV Id: RCV000281036 ; RCV000387505 ; RCV000809497
• dbSNP Id: rs886058343
• gnomAD v4: 3-33068840-T-C
• MyVariant Identifiers: chr3:g.33110332T>C (hg19) ; chr3:g.33068840T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068840T>C , CM000665.2:g.33068840T>C	GRCh38
NC_000003.11:g.33110332T>C , CM000665.1:g.33110332T>C	GRCh37
NC_000003.10:g.33085336T>C	NCBI36
NG_009005.1:g.33363A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.376A>G MANE Select	ENSP00000306920.4:p.Ile126Val
ENST00000307363.9:c.376A>G	ENSP00000306920.4:p.Ile126Val
ENST00000307377.12:c.246-3283A>G	ENSP00000305920.8:n.246-3283A>G
ENST00000399402.7:c.286A>G	ENSP00000382333.2:p.Ile96Val
ENST00000415454.1:c.76-10571A>G	ENSP00000411813.1:n.76-10571A>G
ENST00000438227.1:c.76-3283A>G	ENSP00000401250.1:n.76-3283A>G
ENST00000440656.1:c.-18A>G	ENSP00000411769.1:n.-18A>G
ENST00000446732.5:c.156-3283A>G	ENSP00000407365.1:n.156-3283A>G
ENST00000450835.1:c.286A>G	ENSP00000403264.1:p.Ile96Val
ENST00000464355.1:n.334A>G
ENST00000482097.5:n.109-15291A>G
ENST00000485698.5:n.137-15291A>G
ENST00000498537.5:n.133-15291A>G
NM_000404.2:c.376A>G	NP_000395.2:p.Ile126Val
NM_000404.3:c.376A>G	NP_000395.2:p.Ile126Val
NM_001079811.1:c.286A>G	NP_001073279.1:p.Ile96Val
NM_001079811.2:c.286A>G	NP_001073279.1:p.Ile96Val
NM_001135602.1:c.246-3283A>G	NP_001129074.1:n.246-3283A>G
NM_001135602.2:c.246-3283A>G	NP_001129074.1:n.246-3283A>G
NM_001317040.1:c.520A>G	NP_001303969.1:p.Ile174Val
NM_000404.4:c.376A>G MANE Select	NP_000395.3:p.Ile126Val
NM_001079811.3:c.286A>G	NP_001073279.2:p.Ile96Val
NM_001135602.3:c.246-3283A>G	NP_001129074.2:n.246-3283A>G
NM_001317040.2:c.520A>G	NP_001303969.2:p.Ile174Val
NM_001393580.1:c.376A>G	NP_001380509.1:p.Ile126Val