Canonical Allele Identifier: CA203577

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051896C>T , CM000665.2:g.33051896C>T	GRCh38
NC_000003.11:g.33093388C>T , CM000665.1:g.33093388C>T	GRCh37
NC_000003.10:g.33068392C>T	NCBI36
NG_009005.1:g.50307G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.901G>A MANE Select	NP_000395.3:p.Ala301Thr
ENST00000307363.10:c.901G>A MANE Select	ENSP00000306920.4:p.Ala301Thr
NM_000404.2:c.901G>A	NP_000395.2:p.Ala301Thr
NM_000404.3:c.901G>A	NP_000395.2:p.Ala301Thr
NM_001079811.1:c.811G>A	NP_001073279.1:p.Ala271Thr
NM_001079811.2:c.811G>A	NP_001073279.1:p.Ala271Thr
NM_001079811.3:c.811G>A	NP_001073279.2:p.Ala271Thr
NM_001135602.1:c.508G>A	NP_001129074.1:p.Ala170Thr
NM_001135602.2:c.508G>A	NP_001129074.1:p.Ala170Thr
NM_001135602.3:c.508G>A	NP_001129074.2:p.Ala170Thr
NM_001317040.1:c.1045G>A	NP_001303969.1:p.Ala349Thr
NM_001317040.2:c.1045G>A	NP_001303969.2:p.Ala349Thr
NM_001393580.1:c.901G>A	NP_001380509.1:p.Ala301Thr
ENST00000307363.9:c.901G>A	ENSP00000306920.4:p.Ala301Thr
ENST00000307377.12:c.508G>A	ENSP00000305920.8:p.Ala170Thr
ENST00000399402.7:c.811G>A	ENSP00000382333.2:p.Ala271Thr
ENST00000415454.1:c.424G>A	ENSP00000411813.1:p.Ala142Thr
ENST00000446732.5:c.*344G>A	ENSP00000407365.1:n.*344G>A
ENST00000482097.5:n.276G>A
ENST00000485698.5:n.304G>A
ENST00000498537.5:n.427G>A