Canonical Allele Identifier: CA351999506

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33046230C>T , CM000665.2:g.33046230C>T	GRCh38
NC_000003.11:g.33087722C>T , CM000665.1:g.33087722C>T	GRCh37
NC_000003.10:g.33062726C>T	NCBI36
NG_009005.1:g.55973G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.958G>A MANE Select	NP_000395.3:p.Ala320Thr
ENST00000307363.10:c.958G>A MANE Select	ENSP00000306920.4:p.Ala320Thr
NM_000404.2:c.958G>A	NP_000395.2:p.Ala320Thr
NM_000404.3:c.958G>A	NP_000395.2:p.Ala320Thr
NM_001079811.1:c.868G>A	NP_001073279.1:p.Ala290Thr
NM_001079811.2:c.868G>A	NP_001073279.1:p.Ala290Thr
NM_001079811.3:c.868G>A	NP_001073279.2:p.Ala290Thr
NM_001135602.1:c.565G>A	NP_001129074.1:p.Ala189Thr
NM_001135602.2:c.565G>A	NP_001129074.1:p.Ala189Thr
NM_001135602.3:c.565G>A	NP_001129074.2:p.Ala189Thr
NM_001317040.1:c.1102G>A	NP_001303969.1:p.Ala368Thr
NM_001317040.2:c.1102G>A	NP_001303969.2:p.Ala368Thr
NM_001393580.1:c.958G>A	NP_001380509.1:p.Ala320Thr
ENST00000307363.9:c.958G>A	ENSP00000306920.4:p.Ala320Thr
ENST00000307377.12:c.565G>A	ENSP00000305920.8:p.Ala189Thr
ENST00000399402.7:c.868G>A	ENSP00000382333.2:p.Ala290Thr
ENST00000415454.1:c.481G>A	ENSP00000411813.1:p.Ala161Thr
ENST00000482097.5:n.333G>A
ENST00000485698.5:n.361G>A
ENST00000498537.5:n.484G>A