Canonical Allele Identifier: CA351992515

Gene: GLB1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33065536T>G , CM000665.2:g.33065536T>G	GRCh38
NC_000003.11:g.33107028T>G , CM000665.1:g.33107028T>G	GRCh37
NC_000003.10:g.33082032T>G	NCBI36
NG_009005.1:g.36667A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.479A>C MANE Select	ENSP00000306920.4:p.Lys160Thr
ENST00000307363.9:c.479A>C	ENSP00000306920.4:p.Lys160Thr
ENST00000307377.12:c.267A>C	ENSP00000305920.8:p.Gln89His
ENST00000399402.7:c.389A>C	ENSP00000382333.2:p.Lys130Thr
ENST00000415454.1:c.76-7267A>C	ENSP00000411813.1:n.76-7267A>C
ENST00000438227.1:c.97A>C	ENSP00000401250.1:p.Ser33Arg
ENST00000440656.1:c.86A>C	ENSP00000411769.1:p.Lys29Thr
ENST00000446732.5:c.177A>C	ENSP00000407365.1:p.Gln59His
ENST00000464355.1:n.437A>C
ENST00000482097.5:n.109-11987A>C
ENST00000485698.5:n.137-11987A>C
ENST00000498537.5:n.133-11987A>C
NM_000404.2:c.479A>C	NP_000395.2:p.Lys160Thr
NM_000404.3:c.479A>C	NP_000395.2:p.Lys160Thr
NM_001079811.1:c.389A>C	NP_001073279.1:p.Lys130Thr
NM_001079811.2:c.389A>C	NP_001073279.1:p.Lys130Thr
NM_001135602.1:c.267A>C	NP_001129074.1:p.Gln89His
NM_001135602.2:c.267A>C	NP_001129074.1:p.Gln89His
NM_001317040.1:c.623A>C	NP_001303969.1:p.Lys208Thr
NM_000404.4:c.479A>C MANE Select	NP_000395.3:p.Lys160Thr
NM_001079811.3:c.389A>C	NP_001073279.2:p.Lys130Thr
NM_001135602.3:c.267A>C	NP_001129074.2:p.Gln89His
NM_001317040.2:c.623A>C	NP_001303969.2:p.Lys208Thr
NM_001393580.1:c.479A>C	NP_001380509.1:p.Lys160Thr