Canonical Allele Identifier: CA351992067

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33065492G>A , CM000665.2:g.33065492G>A	GRCh38
NC_000003.11:g.33106984G>A , CM000665.1:g.33106984G>A	GRCh37
NC_000003.10:g.33081988G>A	NCBI36
NG_009005.1:g.36711C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.523C>T MANE Select	NP_000395.3:p.Gln175Ter
ENST00000307363.10:c.523C>T MANE Select	ENSP00000306920.4:p.Gln175Ter
NM_000404.2:c.523C>T	NP_000395.2:p.Gln175Ter
NM_000404.3:c.523C>T	NP_000395.2:p.Gln175Ter
NM_001079811.1:c.433C>T	NP_001073279.1:p.Gln145Ter
NM_001079811.2:c.433C>T	NP_001073279.1:p.Gln145Ter
NM_001079811.3:c.433C>T	NP_001073279.2:p.Gln145Ter
NM_001135602.1:c.311C>T	NP_001129074.1:p.Ser104Leu
NM_001135602.2:c.311C>T	NP_001129074.1:p.Ser104Leu
NM_001135602.3:c.311C>T	NP_001129074.2:p.Ser104Leu
NM_001317040.1:c.667C>T	NP_001303969.1:p.Gln223Ter
NM_001317040.2:c.667C>T	NP_001303969.2:p.Gln223Ter
NM_001393580.1:c.523C>T	NP_001380509.1:p.Gln175Ter
ENST00000307363.9:c.523C>T	ENSP00000306920.4:p.Gln175Ter
ENST00000307377.12:c.311C>T	ENSP00000305920.8:p.Ser104Leu
ENST00000399402.7:c.433C>T	ENSP00000382333.2:p.Gln145Ter
ENST00000415454.1:c.76-7223C>T	ENSP00000411813.1:n.76-7223C>T
ENST00000438227.1:c.*15C>T	ENSP00000401250.1:n.*15C>T
ENST00000440656.1:c.130C>T	ENSP00000411769.1:p.Gln44Ter
ENST00000446732.5:c.221C>T	ENSP00000407365.1:p.Ser74Leu
ENST00000464355.1:n.481C>T
ENST00000482097.5:n.109-11943C>T
ENST00000485698.5:n.137-11943C>T
ENST00000498537.5:n.133-11943C>T