Canonical Allele Identifier: CA352003846

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058087A>G , CM000665.2:g.33058087A>G	GRCh38
NC_000003.11:g.33099579A>G , CM000665.1:g.33099579A>G	GRCh37
NC_000003.10:g.33074583A>G	NCBI36
NG_009005.1:g.44116T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.733+2T>C MANE Select	NP_000395.3:n.733+2T>C
ENST00000307363.10:c.733+2T>C MANE Select	ENSP00000306920.4:n.733+2T>C
NM_000404.2:c.733+2T>C	NP_000395.2:n.733+2T>C
NM_000404.3:c.733+2T>C	NP_000395.2:n.733+2T>C
NM_001079811.1:c.643+2T>C	NP_001073279.1:n.643+2T>C
NM_001079811.2:c.643+2T>C	NP_001073279.1:n.643+2T>C
NM_001079811.3:c.643+2T>C	NP_001073279.2:n.643+2T>C
NM_001135602.1:c.341-4538T>C	NP_001129074.1:n.341-4538T>C
NM_001135602.2:c.341-4538T>C	NP_001129074.1:n.341-4538T>C
NM_001135602.3:c.341-4538T>C	NP_001129074.2:n.341-4538T>C
NM_001317040.1:c.877+2T>C	NP_001303969.1:n.877+2T>C
NM_001317040.2:c.877+2T>C	NP_001303969.2:n.877+2T>C
NM_001393580.1:c.733+2T>C	NP_001380509.1:n.733+2T>C
ENST00000307363.9:c.733+2T>C	ENSP00000306920.4:n.733+2T>C
ENST00000307377.12:c.341-4538T>C	ENSP00000305920.8:n.341-4538T>C
ENST00000399402.7:c.643+2T>C	ENSP00000382333.2:n.643+2T>C
ENST00000415454.1:c.256+2T>C	ENSP00000411813.1:n.256+2T>C
ENST00000438227.1:c.*225+2T>C	ENSP00000401250.1:n.*225+2T>C
ENST00000440656.1:c.342T>C	ENSP00000411769.1:p.Gly114=
ENST00000446732.5:c.*176+2T>C	ENSP00000407365.1:n.*176+2T>C
ENST00000482097.5:n.109-4538T>C
ENST00000485698.5:n.137-4538T>C
ENST00000498537.5:n.133-4538T>C