Canonical Allele Identifier: CA16042439
Gene: GLB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372370
ClinVar RCV Id: RCV000414347
dbSNP Id: rs1057517738

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33068818A>G , CM000665.2:g.33068818A>G GRCh38
NC_000003.11:g.33110310A>G , CM000665.1:g.33110310A>G GRCh37
NC_000003.10:g.33085314A>G NCBI36
NG_009005.1:g.33385T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307363.10:c.396+2T>C MANE Select ENSP00000306920.4:n.396+2T>C
ENST00000307363.9:c.396+2T>C ENSP00000306920.4:n.396+2T>C
ENST00000307377.12:c.246-3261T>C ENSP00000305920.8:n.246-3261T>C
ENST00000399402.7:c.306+2T>C ENSP00000382333.2:n.306+2T>C
ENST00000415454.1:c.76-10549T>C ENSP00000411813.1:n.76-10549T>C
ENST00000438227.1:c.76-3261T>C ENSP00000401250.1:n.76-3261T>C
ENST00000440656.1:c.3+2T>C ENSP00000411769.1:n.3+2T>C
ENST00000446732.5:c.156-3261T>C ENSP00000407365.1:n.156-3261T>C
ENST00000464355.1:n.354+2T>C
ENST00000482097.5:n.109-15269T>C
ENST00000485698.5:n.137-15269T>C
ENST00000498537.5:n.133-15269T>C
NM_000404.2:c.396+2T>C NP_000395.2:n.396+2T>C
NM_000404.3:c.396+2T>C NP_000395.2:n.396+2T>C
NM_001079811.1:c.306+2T>C NP_001073279.1:n.306+2T>C
NM_001079811.2:c.306+2T>C NP_001073279.1:n.306+2T>C
NM_001135602.1:c.246-3261T>C NP_001129074.1:n.246-3261T>C
NM_001135602.2:c.246-3261T>C NP_001129074.1:n.246-3261T>C
NM_001317040.1:c.540+2T>C NP_001303969.1:n.540+2T>C
NM_000404.4:c.396+2T>C MANE Select NP_000395.3:n.396+2T>C
NM_001079811.3:c.306+2T>C NP_001073279.2:n.306+2T>C
NM_001135602.3:c.246-3261T>C NP_001129074.2:n.246-3261T>C
NM_001317040.2:c.540+2T>C NP_001303969.2:n.540+2T>C
NM_001393580.1:c.396+2T>C NP_001380509.1:n.396+2T>C