Canonical Allele Identifier: CA352003955

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058112T>C , CM000665.2:g.33058112T>C	GRCh38
NC_000003.11:g.33099604T>C , CM000665.1:g.33099604T>C	GRCh37
NC_000003.10:g.33074608T>C	NCBI36
NG_009005.1:g.44091A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.710A>G MANE Select	NP_000395.3:p.Tyr237Cys
ENST00000307363.10:c.710A>G MANE Select	ENSP00000306920.4:p.Tyr237Cys
NM_000404.2:c.710A>G	NP_000395.2:p.Tyr237Cys
NM_000404.3:c.710A>G	NP_000395.2:p.Tyr237Cys
NM_001079811.1:c.620A>G	NP_001073279.1:p.Tyr207Cys
NM_001079811.2:c.620A>G	NP_001073279.1:p.Tyr207Cys
NM_001079811.3:c.620A>G	NP_001073279.2:p.Tyr207Cys
NM_001135602.1:c.341-4563A>G	NP_001129074.1:n.341-4563A>G
NM_001135602.2:c.341-4563A>G	NP_001129074.1:n.341-4563A>G
NM_001135602.3:c.341-4563A>G	NP_001129074.2:n.341-4563A>G
NM_001317040.1:c.854A>G	NP_001303969.1:p.Tyr285Cys
NM_001317040.2:c.854A>G	NP_001303969.2:p.Tyr285Cys
NM_001393580.1:c.710A>G	NP_001380509.1:p.Tyr237Cys
ENST00000307363.9:c.710A>G	ENSP00000306920.4:p.Tyr237Cys
ENST00000307377.12:c.341-4563A>G	ENSP00000305920.8:n.341-4563A>G
ENST00000399402.7:c.620A>G	ENSP00000382333.2:p.Tyr207Cys
ENST00000415454.1:c.233A>G	ENSP00000411813.1:p.Tyr78Cys
ENST00000438227.1:c.*202A>G	ENSP00000401250.1:n.*202A>G
ENST00000440656.1:c.317A>G	ENSP00000411769.1:p.Tyr106Cys
ENST00000446732.5:c.*153A>G	ENSP00000407365.1:n.*153A>G
ENST00000482097.5:n.109-4563A>G
ENST00000485698.5:n.137-4563A>G
ENST00000498537.5:n.133-4563A>G