Canonical Allele Identifier: CA351996665

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33072641A>G , CM000665.2:g.33072641A>G	GRCh38
NC_000003.11:g.33114133A>G , CM000665.1:g.33114133A>G	GRCh37
NC_000003.10:g.33089137A>G	NCBI36
NG_009005.1:g.29562T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.148T>C MANE Select	NP_000395.3:p.Tyr50His
ENST00000307363.10:c.148T>C MANE Select	ENSP00000306920.4:p.Tyr50His
NM_000404.2:c.148T>C	NP_000395.2:p.Tyr50His
NM_000404.3:c.148T>C	NP_000395.2:p.Tyr50His
NM_001079811.1:c.58T>C	NP_001073279.1:p.Tyr20His
NM_001079811.2:c.58T>C	NP_001073279.1:p.Tyr20His
NM_001079811.3:c.58T>C	NP_001073279.2:p.Tyr20His
NM_001135602.1:c.148T>C	NP_001129074.1:p.Tyr50His
NM_001135602.2:c.148T>C	NP_001129074.1:p.Tyr50His
NM_001135602.3:c.148T>C	NP_001129074.2:p.Tyr50His
NM_001317040.1:c.292T>C	NP_001303969.1:p.Tyr98His
NM_001317040.2:c.292T>C	NP_001303969.2:p.Tyr98His
NM_001393580.1:c.148T>C	NP_001380509.1:p.Tyr50His
ENST00000307363.9:c.148T>C	ENSP00000306920.4:p.Tyr50His
ENST00000307377.12:c.148T>C	ENSP00000305920.8:p.Tyr50His
ENST00000399402.7:c.58T>C	ENSP00000382333.2:p.Tyr20His
ENST00000415454.1:c.76-14372T>C	ENSP00000411813.1:n.76-14372T>C
ENST00000436768.1:c.292T>C	ENSP00000387989.1:p.Tyr98His
ENST00000438227.1:c.76-7084T>C	ENSP00000401250.1:n.76-7084T>C
ENST00000440656.1:c.-148-3671T>C	ENSP00000411769.1:n.-148-3671T>C
ENST00000446732.5:c.58T>C	ENSP00000407365.1:p.Tyr20His
ENST00000450835.1:c.58T>C	ENSP00000403264.1:p.Tyr20His
ENST00000464355.1:n.106T>C
ENST00000482097.5:n.109-19092T>C
ENST00000485698.5:n.137-19092T>C
ENST00000498537.5:n.133-19092T>C