Canonical Allele Identifier: CA351992464

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33065532C>T , CM000665.2:g.33065532C>T	GRCh38
NC_000003.11:g.33107024C>T , CM000665.1:g.33107024C>T	GRCh37
NC_000003.10:g.33082028C>T	NCBI36
NG_009005.1:g.36671G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.483G>A MANE Select	NP_000395.3:p.Trp161Ter
ENST00000307363.10:c.483G>A MANE Select	ENSP00000306920.4:p.Trp161Ter
NM_000404.2:c.483G>A	NP_000395.2:p.Trp161Ter
NM_000404.3:c.483G>A	NP_000395.2:p.Trp161Ter
NM_001079811.1:c.393G>A	NP_001073279.1:p.Trp131Ter
NM_001079811.2:c.393G>A	NP_001073279.1:p.Trp131Ter
NM_001079811.3:c.393G>A	NP_001073279.2:p.Trp131Ter
NM_001135602.1:c.271G>A	NP_001129074.1:p.Val91Ile
NM_001135602.2:c.271G>A	NP_001129074.1:p.Val91Ile
NM_001135602.3:c.271G>A	NP_001129074.2:p.Val91Ile
NM_001317040.1:c.627G>A	NP_001303969.1:p.Trp209Ter
NM_001317040.2:c.627G>A	NP_001303969.2:p.Trp209Ter
NM_001393580.1:c.483G>A	NP_001380509.1:p.Trp161Ter
ENST00000307363.9:c.483G>A	ENSP00000306920.4:p.Trp161Ter
ENST00000307377.12:c.271G>A	ENSP00000305920.8:p.Val91Ile
ENST00000399402.7:c.393G>A	ENSP00000382333.2:p.Trp131Ter
ENST00000415454.1:c.76-7263G>A	ENSP00000411813.1:n.76-7263G>A
ENST00000438227.1:c.101G>A	ENSP00000401250.1:p.Gly34Asp
ENST00000440656.1:c.90G>A	ENSP00000411769.1:p.Trp30Ter
ENST00000446732.5:c.181G>A	ENSP00000407365.1:p.Val61Ile
ENST00000464355.1:n.441G>A
ENST00000482097.5:n.109-11983G>A
ENST00000485698.5:n.137-11983G>A
ENST00000498537.5:n.133-11983G>A