Canonical Allele Identifier: CA351991646

Gene: GLB1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33065462C>T , CM000665.2:g.33065462C>T	GRCh38
NC_000003.11:g.33106954C>T , CM000665.1:g.33106954C>T	GRCh37
NC_000003.10:g.33081958C>T	NCBI36
NG_009005.1:g.36741G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.552+1G>A MANE Select	ENSP00000306920.4:n.552+1G>A
ENST00000307363.9:c.552+1G>A	ENSP00000306920.4:n.552+1G>A
ENST00000307377.12:c.340+1G>A	ENSP00000305920.8:n.340+1G>A
ENST00000399402.7:c.462+1G>A	ENSP00000382333.2:n.462+1G>A
ENST00000415454.1:c.76-7193G>A	ENSP00000411813.1:n.76-7193G>A
ENST00000438227.1:c.*44+1G>A	ENSP00000401250.1:n.*44+1G>A
ENST00000440656.1:c.159+1G>A	ENSP00000411769.1:n.159+1G>A
ENST00000446732.5:c.250+1G>A	ENSP00000407365.1:n.250+1G>A
ENST00000464355.1:n.510+1G>A
ENST00000482097.5:n.109-11913G>A
ENST00000485698.5:n.137-11913G>A
ENST00000498537.5:n.133-11913G>A
NM_000404.2:c.552+1G>A	NP_000395.2:n.552+1G>A
NM_000404.3:c.552+1G>A	NP_000395.2:n.552+1G>A
NM_001079811.1:c.462+1G>A	NP_001073279.1:n.462+1G>A
NM_001079811.2:c.462+1G>A	NP_001073279.1:n.462+1G>A
NM_001135602.1:c.340+1G>A	NP_001129074.1:n.340+1G>A
NM_001135602.2:c.340+1G>A	NP_001129074.1:n.340+1G>A
NM_001317040.1:c.696+1G>A	NP_001303969.1:n.696+1G>A
NM_000404.4:c.552+1G>A MANE Select	NP_000395.3:n.552+1G>A
NM_001079811.3:c.462+1G>A	NP_001073279.2:n.462+1G>A
NM_001135602.3:c.340+1G>A	NP_001129074.2:n.340+1G>A
NM_001317040.2:c.696+1G>A	NP_001303969.2:n.696+1G>A
NM_001393580.1:c.552+1G>A	NP_001380509.1:n.552+1G>A