Canonical Allele Identifier: CA432959689

Gene: GLB1

Linked Data

• gnomAD v4: 3-33058125-G-A
• MyVariant Identifiers: chr3:g.33099617G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.697C>T MANE Select	ENSP00000306920.4:p.Leu233=
ENST00000307363.9:c.697C>T	ENSP00000306920.4:p.Leu233=
ENST00000307377.12:c.341-4576C>T	ENSP00000305920.8:n.341-4576C>T
ENST00000399402.7:c.607C>T	ENSP00000382333.2:p.Leu203=
ENST00000415454.1:c.220C>T	ENSP00000411813.1:p.Leu74=
ENST00000438227.1:c.*189C>T	ENSP00000401250.1:n.*189C>T
ENST00000440656.1:c.304C>T	ENSP00000411769.1:p.Leu102=
ENST00000446732.5:c.*140C>T	ENSP00000407365.1:n.*140C>T
ENST00000482097.5:n.109-4576C>T
ENST00000485698.5:n.137-4576C>T
ENST00000498537.5:n.133-4576C>T
NM_000404.2:c.697C>T	NP_000395.2:p.Leu233=
NM_000404.3:c.697C>T	NP_000395.2:p.Leu233=
NM_001079811.1:c.607C>T	NP_001073279.1:p.Leu203=
NM_001079811.2:c.607C>T	NP_001073279.1:p.Leu203=
NM_001135602.1:c.341-4576C>T	NP_001129074.1:n.341-4576C>T
NM_001135602.2:c.341-4576C>T	NP_001129074.1:n.341-4576C>T
NM_001317040.1:c.841C>T	NP_001303969.1:p.Leu281=
NM_000404.4:c.697C>T MANE Select	NP_000395.3:p.Leu233=
NM_001079811.3:c.607C>T	NP_001073279.2:p.Leu203=
NM_001135602.3:c.341-4576C>T	NP_001129074.2:n.341-4576C>T
NM_001317040.2:c.841C>T	NP_001303969.2:p.Leu281=
NM_001393580.1:c.697C>T	NP_001380509.1:p.Leu233=