Canonical Allele Identifier: CA351992105

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33065498G>A , CM000665.2:g.33065498G>A	GRCh38
NC_000003.11:g.33106990G>A , CM000665.1:g.33106990G>A	GRCh37
NC_000003.10:g.33081994G>A	NCBI36
NG_009005.1:g.36705C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.517C>T MANE Select	NP_000395.3:p.Leu173Phe
ENST00000307363.10:c.517C>T MANE Select	ENSP00000306920.4:p.Leu173Phe
NM_000404.2:c.517C>T	NP_000395.2:p.Leu173Phe
NM_000404.3:c.517C>T	NP_000395.2:p.Leu173Phe
NM_001079811.1:c.427C>T	NP_001073279.1:p.Leu143Phe
NM_001079811.2:c.427C>T	NP_001073279.1:p.Leu143Phe
NM_001079811.3:c.427C>T	NP_001073279.2:p.Leu143Phe
NM_001135602.1:c.305C>T	NP_001129074.1:p.Pro102Leu
NM_001135602.2:c.305C>T	NP_001129074.1:p.Pro102Leu
NM_001135602.3:c.305C>T	NP_001129074.2:p.Pro102Leu
NM_001317040.1:c.661C>T	NP_001303969.1:p.Leu221Phe
NM_001317040.2:c.661C>T	NP_001303969.2:p.Leu221Phe
NM_001393580.1:c.517C>T	NP_001380509.1:p.Leu173Phe
ENST00000307363.9:c.517C>T	ENSP00000306920.4:p.Leu173Phe
ENST00000307377.12:c.305C>T	ENSP00000305920.8:p.Pro102Leu
ENST00000399402.7:c.427C>T	ENSP00000382333.2:p.Leu143Phe
ENST00000415454.1:c.76-7229C>T	ENSP00000411813.1:n.76-7229C>T
ENST00000438227.1:c.*9C>T	ENSP00000401250.1:n.*9C>T
ENST00000440656.1:c.124C>T	ENSP00000411769.1:p.Leu42Phe
ENST00000446732.5:c.215C>T	ENSP00000407365.1:p.Pro72Leu
ENST00000464355.1:n.475C>T
ENST00000482097.5:n.109-11949C>T
ENST00000485698.5:n.137-11949C>T
ENST00000498537.5:n.133-11949C>T