Canonical Allele Identifier: CA352001574

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051970T>G , CM000665.2:g.33051970T>G	GRCh38
NC_000003.11:g.33093462T>G , CM000665.1:g.33093462T>G	GRCh37
NC_000003.10:g.33068466T>G	NCBI36
NG_009005.1:g.50233A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.827A>C MANE Select	NP_000395.3:p.His276Pro
ENST00000307363.10:c.827A>C MANE Select	ENSP00000306920.4:p.His276Pro
NM_000404.2:c.827A>C	NP_000395.2:p.His276Pro
NM_000404.3:c.827A>C	NP_000395.2:p.His276Pro
NM_001079811.1:c.737A>C	NP_001073279.1:p.His246Pro
NM_001079811.2:c.737A>C	NP_001073279.1:p.His246Pro
NM_001079811.3:c.737A>C	NP_001073279.2:p.His246Pro
NM_001135602.1:c.434A>C	NP_001129074.1:p.His145Pro
NM_001135602.2:c.434A>C	NP_001129074.1:p.His145Pro
NM_001135602.3:c.434A>C	NP_001129074.2:p.His145Pro
NM_001317040.1:c.971A>C	NP_001303969.1:p.His324Pro
NM_001317040.2:c.971A>C	NP_001303969.2:p.His324Pro
NM_001393580.1:c.827A>C	NP_001380509.1:p.His276Pro
ENST00000307363.9:c.827A>C	ENSP00000306920.4:p.His276Pro
ENST00000307377.12:c.434A>C	ENSP00000305920.8:p.His145Pro
ENST00000399402.7:c.737A>C	ENSP00000382333.2:p.His246Pro
ENST00000415454.1:c.350A>C	ENSP00000411813.1:p.His117Pro
ENST00000438227.1:c.*319A>C	ENSP00000401250.1:n.*319A>C
ENST00000446732.5:c.*270A>C	ENSP00000407365.1:n.*270A>C
ENST00000482097.5:n.202A>C
ENST00000485698.5:n.230A>C
ENST00000498537.5:n.353A>C