Canonical Allele Identifier: CA352004006

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33099616A>T (hg19) ; chr3:g.33058124A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058124A>T , CM000665.2:g.33058124A>T	GRCh38
NC_000003.11:g.33099616A>T , CM000665.1:g.33099616A>T	GRCh37
NC_000003.10:g.33074620A>T	NCBI36
NG_009005.1:g.44079T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.698T>A MANE Select	ENSP00000306920.4:p.Leu233Gln
ENST00000307363.9:c.698T>A	ENSP00000306920.4:p.Leu233Gln
ENST00000307377.12:c.341-4575T>A	ENSP00000305920.8:n.341-4575T>A
ENST00000399402.7:c.608T>A	ENSP00000382333.2:p.Leu203Gln
ENST00000415454.1:c.221T>A	ENSP00000411813.1:p.Leu74Gln
ENST00000438227.1:c.*190T>A	ENSP00000401250.1:n.*190T>A
ENST00000440656.1:c.305T>A	ENSP00000411769.1:p.Leu102Gln
ENST00000446732.5:c.*141T>A	ENSP00000407365.1:n.*141T>A
ENST00000482097.5:n.109-4575T>A
ENST00000485698.5:n.137-4575T>A
ENST00000498537.5:n.133-4575T>A
NM_000404.2:c.698T>A	NP_000395.2:p.Leu233Gln
NM_000404.3:c.698T>A	NP_000395.2:p.Leu233Gln
NM_001079811.1:c.608T>A	NP_001073279.1:p.Leu203Gln
NM_001079811.2:c.608T>A	NP_001073279.1:p.Leu203Gln
NM_001135602.1:c.341-4575T>A	NP_001129074.1:n.341-4575T>A
NM_001135602.2:c.341-4575T>A	NP_001129074.1:n.341-4575T>A
NM_001317040.1:c.842T>A	NP_001303969.1:p.Leu281Gln
NM_000404.4:c.698T>A MANE Select	NP_000395.3:p.Leu233Gln
NM_001079811.3:c.608T>A	NP_001073279.2:p.Leu203Gln
NM_001135602.3:c.341-4575T>A	NP_001129074.2:n.341-4575T>A
NM_001317040.2:c.842T>A	NP_001303969.2:p.Leu281Gln
NM_001393580.1:c.698T>A	NP_001380509.1:p.Leu233Gln