Canonical Allele Identifier: CA352004817

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058248A>G , CM000665.2:g.33058248A>G	GRCh38
NC_000003.11:g.33099740A>G , CM000665.1:g.33099740A>G	GRCh37
NC_000003.10:g.33074744A>G	NCBI36
NG_009005.1:g.43955T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.574T>C MANE Select	NP_000395.3:p.Tyr192His
ENST00000307363.10:c.574T>C MANE Select	ENSP00000306920.4:p.Tyr192His
NM_000404.2:c.574T>C	NP_000395.2:p.Tyr192His
NM_000404.3:c.574T>C	NP_000395.2:p.Tyr192His
NM_001079811.1:c.484T>C	NP_001073279.1:p.Tyr162His
NM_001079811.2:c.484T>C	NP_001073279.1:p.Tyr162His
NM_001079811.3:c.484T>C	NP_001073279.2:p.Tyr162His
NM_001135602.1:c.341-4699T>C	NP_001129074.1:n.341-4699T>C
NM_001135602.2:c.341-4699T>C	NP_001129074.1:n.341-4699T>C
NM_001135602.3:c.341-4699T>C	NP_001129074.2:n.341-4699T>C
NM_001317040.1:c.718T>C	NP_001303969.1:p.Tyr240His
NM_001317040.2:c.718T>C	NP_001303969.2:p.Tyr240His
NM_001393580.1:c.574T>C	NP_001380509.1:p.Tyr192His
ENST00000307363.9:c.574T>C	ENSP00000306920.4:p.Tyr192His
ENST00000307377.12:c.341-4699T>C	ENSP00000305920.8:n.341-4699T>C
ENST00000399402.7:c.484T>C	ENSP00000382333.2:p.Tyr162His
ENST00000415454.1:c.97T>C	ENSP00000411813.1:p.Tyr33His
ENST00000438227.1:c.*66T>C	ENSP00000401250.1:n.*66T>C
ENST00000440656.1:c.181T>C	ENSP00000411769.1:p.Tyr61His
ENST00000446732.5:c.*17T>C	ENSP00000407365.1:n.*17T>C
ENST00000482097.5:n.109-4699T>C
ENST00000485698.5:n.137-4699T>C
ENST00000498537.5:n.133-4699T>C