Canonical Allele Identifier: CA352002661

Gene: GLB1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33053508C>A , CM000665.2:g.33053508C>A	GRCh38
NC_000003.11:g.33095000C>A , CM000665.1:g.33095000C>A	GRCh37
NC_000003.10:g.33070004C>A	NCBI36
NG_009005.1:g.48695G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.775G>T MANE Select	ENSP00000306920.4:p.Glu259Ter
ENST00000307363.9:c.775G>T	ENSP00000306920.4:p.Glu259Ter
ENST00000307377.12:c.382G>T	ENSP00000305920.8:p.Glu128Ter
ENST00000399402.7:c.685G>T	ENSP00000382333.2:p.Glu229Ter
ENST00000415454.1:c.298G>T	ENSP00000411813.1:p.Glu100Ter
ENST00000438227.1:c.*267G>T	ENSP00000401250.1:n.*267G>T
ENST00000446732.5:c.*218G>T	ENSP00000407365.1:n.*218G>T
ENST00000482097.5:n.150G>T
ENST00000485698.5:n.178G>T
ENST00000498537.5:n.174G>T
NM_000404.2:c.775G>T	NP_000395.2:p.Glu259Ter
NM_000404.3:c.775G>T	NP_000395.2:p.Glu259Ter
NM_001079811.1:c.685G>T	NP_001073279.1:p.Glu229Ter
NM_001079811.2:c.685G>T	NP_001073279.1:p.Glu229Ter
NM_001135602.1:c.382G>T	NP_001129074.1:p.Glu128Ter
NM_001135602.2:c.382G>T	NP_001129074.1:p.Glu128Ter
NM_001317040.1:c.919G>T	NP_001303969.1:p.Glu307Ter
NM_000404.4:c.775G>T MANE Select	NP_000395.3:p.Glu259Ter
NM_001079811.3:c.685G>T	NP_001073279.2:p.Glu229Ter
NM_001135602.3:c.382G>T	NP_001129074.2:p.Glu128Ter
NM_001317040.2:c.919G>T	NP_001303969.2:p.Glu307Ter
NM_001393580.1:c.775G>T	NP_001380509.1:p.Glu259Ter