Canonical Allele Identifier: CA351992123

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33018477G>A , CM000665.2:g.33018477G>A	GRCh38
NC_000003.11:g.33059969G>A , CM000665.1:g.33059969G>A	GRCh37
NC_000003.10:g.33034973G>A	NCBI36
NG_009005.1:g.83726C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1318C>T MANE Select	NP_000395.3:p.His440Tyr
ENST00000307363.10:c.1318C>T MANE Select	ENSP00000306920.4:p.His440Tyr
NM_000404.2:c.1318C>T	NP_000395.2:p.His440Tyr
NM_000404.3:c.1318C>T	NP_000395.2:p.His440Tyr
NM_001079811.1:c.1228C>T	NP_001073279.1:p.His410Tyr
NM_001079811.2:c.1228C>T	NP_001073279.1:p.His410Tyr
NM_001079811.3:c.1228C>T	NP_001073279.2:p.His410Tyr
NM_001135602.1:c.925C>T	NP_001129074.1:p.His309Tyr
NM_001135602.2:c.925C>T	NP_001129074.1:p.His309Tyr
NM_001135602.3:c.925C>T	NP_001129074.2:p.His309Tyr
NM_001317040.1:c.1462C>T	NP_001303969.1:p.His488Tyr
NM_001317040.2:c.1462C>T	NP_001303969.2:p.His488Tyr
NM_001393580.1:c.1318C>T	NP_001380509.1:p.His440Tyr
ENST00000307363.9:c.1318C>T	ENSP00000306920.4:p.His440Tyr
ENST00000307377.12:c.925C>T	ENSP00000305920.8:p.His309Tyr
ENST00000399402.7:c.1228C>T	ENSP00000382333.2:p.His410Tyr
ENST00000461475.5:n.417C>T
ENST00000467571.5:n.355C>T
ENST00000497796.5:n.570C>T