Canonical Allele Identifier: CA2299779

Gene: GLB1

Linked Data

• ClinVar Variation Id: 521991
• ClinVar RCV Id: RCV000624583 ; RCV000672724 ; RCV001057694 ; RCV003238787
• dbSNP Id: rs780523881
• ExAC: 3:33114135 C / T
• gnomAD v2: 3-33114135-C-T
• gnomAD v4: 3-33072643-C-T
• COSMIC: COSM4116937 ; COSM4116938
• MyVariant Identifiers: chr3:g.33114135C>T (hg19) ; chr3:g.33072643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33072643C>T , CM000665.2:g.33072643C>T	GRCh38
NC_000003.11:g.33114135C>T , CM000665.1:g.33114135C>T	GRCh37
NC_000003.10:g.33089139C>T	NCBI36
NG_009005.1:g.29560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.146G>A MANE Select	ENSP00000306920.4:p.Arg49His
ENST00000307363.9:c.146G>A	ENSP00000306920.4:p.Arg49His
ENST00000307377.12:c.146G>A	ENSP00000305920.8:p.Arg49His
ENST00000399402.7:c.56G>A	ENSP00000382333.2:p.Arg19His
ENST00000415454.1:c.76-14374G>A	ENSP00000411813.1:n.76-14374G>A
ENST00000436768.1:c.290G>A	ENSP00000387989.1:p.Arg97His
ENST00000438227.1:c.76-7086G>A	ENSP00000401250.1:n.76-7086G>A
ENST00000440656.1:c.-148-3673G>A	ENSP00000411769.1:n.-148-3673G>A
ENST00000446732.5:c.56G>A	ENSP00000407365.1:p.Arg19His
ENST00000450835.1:c.56G>A	ENSP00000403264.1:p.Arg19His
ENST00000464355.1:n.104G>A
ENST00000482097.5:n.109-19094G>A
ENST00000485698.5:n.137-19094G>A
ENST00000498537.5:n.133-19094G>A
NM_000404.2:c.146G>A	NP_000395.2:p.Arg49His
NM_000404.3:c.146G>A	NP_000395.2:p.Arg49His
NM_001079811.1:c.56G>A	NP_001073279.1:p.Arg19His
NM_001079811.2:c.56G>A	NP_001073279.1:p.Arg19His
NM_001135602.1:c.146G>A	NP_001129074.1:p.Arg49His
NM_001135602.2:c.146G>A	NP_001129074.1:p.Arg49His
NM_001317040.1:c.290G>A	NP_001303969.1:p.Arg97His
NM_000404.4:c.146G>A MANE Select	NP_000395.3:p.Arg49His
NM_001079811.3:c.56G>A	NP_001073279.2:p.Arg19His
NM_001135602.3:c.146G>A	NP_001129074.2:p.Arg49His
NM_001317040.2:c.290G>A	NP_001303969.2:p.Arg97His
NM_001393580.1:c.146G>A	NP_001380509.1:p.Arg49His