Canonical Allele Identifier: CA2299631

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2082728
• ClinVar RCV Id: RCV002999358
• dbSNP Id: rs751275184
• ExAC: 3:33099617 G / T
• gnomAD v2: 3-33099617-G-T
• gnomAD v3: 3-33058125-G-T
• gnomAD v4: 3-33058125-G-T
• MyVariant Identifiers: chr3:g.33099617G>T (hg19) ; chr3:g.33058125G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058125G>T , CM000665.2:g.33058125G>T	GRCh38
NC_000003.11:g.33099617G>T , CM000665.1:g.33099617G>T	GRCh37
NC_000003.10:g.33074621G>T	NCBI36
NG_009005.1:g.44078C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.697C>A MANE Select	ENSP00000306920.4:p.Leu233Met
ENST00000307363.9:c.697C>A	ENSP00000306920.4:p.Leu233Met
ENST00000307377.12:c.341-4576C>A	ENSP00000305920.8:n.341-4576C>A
ENST00000399402.7:c.607C>A	ENSP00000382333.2:p.Leu203Met
ENST00000415454.1:c.220C>A	ENSP00000411813.1:p.Leu74Met
ENST00000438227.1:c.*189C>A	ENSP00000401250.1:n.*189C>A
ENST00000440656.1:c.304C>A	ENSP00000411769.1:p.Leu102Met
ENST00000446732.5:c.*140C>A	ENSP00000407365.1:n.*140C>A
ENST00000482097.5:n.109-4576C>A
ENST00000485698.5:n.137-4576C>A
ENST00000498537.5:n.133-4576C>A
NM_000404.2:c.697C>A	NP_000395.2:p.Leu233Met
NM_000404.3:c.697C>A	NP_000395.2:p.Leu233Met
NM_001079811.1:c.607C>A	NP_001073279.1:p.Leu203Met
NM_001079811.2:c.607C>A	NP_001073279.1:p.Leu203Met
NM_001135602.1:c.341-4576C>A	NP_001129074.1:n.341-4576C>A
NM_001135602.2:c.341-4576C>A	NP_001129074.1:n.341-4576C>A
NM_001317040.1:c.841C>A	NP_001303969.1:p.Leu281Met
NM_000404.4:c.697C>A MANE Select	NP_000395.3:p.Leu233Met
NM_001079811.3:c.607C>A	NP_001073279.2:p.Leu203Met
NM_001135602.3:c.341-4576C>A	NP_001129074.2:n.341-4576C>A
NM_001317040.2:c.841C>A	NP_001303969.2:p.Leu281Met
NM_001393580.1:c.697C>A	NP_001380509.1:p.Leu233Met