Canonical Allele Identifier: CA351999382

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33046179G>C , CM000665.2:g.33046179G>C	GRCh38
NC_000003.11:g.33087671G>C , CM000665.1:g.33087671G>C	GRCh37
NC_000003.10:g.33062675G>C	NCBI36
NG_009005.1:g.56024C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1009C>G MANE Select	NP_000395.3:p.Leu337Val
ENST00000307363.10:c.1009C>G MANE Select	ENSP00000306920.4:p.Leu337Val
NM_000404.2:c.1009C>G	NP_000395.2:p.Leu337Val
NM_000404.3:c.1009C>G	NP_000395.2:p.Leu337Val
NM_001079811.1:c.919C>G	NP_001073279.1:p.Leu307Val
NM_001079811.2:c.919C>G	NP_001073279.1:p.Leu307Val
NM_001079811.3:c.919C>G	NP_001073279.2:p.Leu307Val
NM_001135602.1:c.616C>G	NP_001129074.1:p.Leu206Val
NM_001135602.2:c.616C>G	NP_001129074.1:p.Leu206Val
NM_001135602.3:c.616C>G	NP_001129074.2:p.Leu206Val
NM_001317040.1:c.1153C>G	NP_001303969.1:p.Leu385Val
NM_001317040.2:c.1153C>G	NP_001303969.2:p.Leu385Val
NM_001393580.1:c.1009C>G	NP_001380509.1:p.Leu337Val
ENST00000307363.9:c.1009C>G	ENSP00000306920.4:p.Leu337Val
ENST00000307377.12:c.616C>G	ENSP00000305920.8:p.Leu206Val
ENST00000399402.7:c.919C>G	ENSP00000382333.2:p.Leu307Val
ENST00000415454.1:c.532C>G	ENSP00000411813.1:p.Leu178Val
ENST00000482097.5:n.384C>G
ENST00000485698.5:n.412C>G
ENST00000490658.2:n.14C>G
ENST00000498537.5:n.535C>G