Canonical Allele Identifier: CA2299602

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33053501T>C , CM000665.2:g.33053501T>C	GRCh38
NC_000003.11:g.33094993T>C , CM000665.1:g.33094993T>C	GRCh37
NC_000003.10:g.33069997T>C	NCBI36
NG_009005.1:g.48702A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.782A>G MANE Select	NP_000395.3:p.Lys261Arg
ENST00000307363.10:c.782A>G MANE Select	ENSP00000306920.4:p.Lys261Arg
NM_000404.2:c.782A>G	NP_000395.2:p.Lys261Arg
NM_000404.3:c.782A>G	NP_000395.2:p.Lys261Arg
NM_001079811.1:c.692A>G	NP_001073279.1:p.Lys231Arg
NM_001079811.2:c.692A>G	NP_001073279.1:p.Lys231Arg
NM_001079811.3:c.692A>G	NP_001073279.2:p.Lys231Arg
NM_001135602.1:c.389A>G	NP_001129074.1:p.Lys130Arg
NM_001135602.2:c.389A>G	NP_001129074.1:p.Lys130Arg
NM_001135602.3:c.389A>G	NP_001129074.2:p.Lys130Arg
NM_001317040.1:c.926A>G	NP_001303969.1:p.Lys309Arg
NM_001317040.2:c.926A>G	NP_001303969.2:p.Lys309Arg
NM_001393580.1:c.782A>G	NP_001380509.1:p.Lys261Arg
ENST00000307363.9:c.782A>G	ENSP00000306920.4:p.Lys261Arg
ENST00000307377.12:c.389A>G	ENSP00000305920.8:p.Lys130Arg
ENST00000399402.7:c.692A>G	ENSP00000382333.2:p.Lys231Arg
ENST00000415454.1:c.305A>G	ENSP00000411813.1:p.Lys102Arg
ENST00000438227.1:c.*274A>G	ENSP00000401250.1:n.*274A>G
ENST00000446732.5:c.*225A>G	ENSP00000407365.1:n.*225A>G
ENST00000482097.5:n.157A>G
ENST00000485698.5:n.185A>G
ENST00000498537.5:n.181A>G