Canonical Allele Identifier: CA352001617

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051978C>T , CM000665.2:g.33051978C>T	GRCh38
NC_000003.11:g.33093470C>T , CM000665.1:g.33093470C>T	GRCh37
NC_000003.10:g.33068474C>T	NCBI36
NG_009005.1:g.50225G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.819G>A MANE Select	NP_000395.3:p.Trp273Ter
ENST00000307363.10:c.819G>A MANE Select	ENSP00000306920.4:p.Trp273Ter
NM_000404.2:c.819G>A	NP_000395.2:p.Trp273Ter
NM_000404.3:c.819G>A	NP_000395.2:p.Trp273Ter
NM_001079811.1:c.729G>A	NP_001073279.1:p.Trp243Ter
NM_001079811.2:c.729G>A	NP_001073279.1:p.Trp243Ter
NM_001079811.3:c.729G>A	NP_001073279.2:p.Trp243Ter
NM_001135602.1:c.426G>A	NP_001129074.1:p.Trp142Ter
NM_001135602.2:c.426G>A	NP_001129074.1:p.Trp142Ter
NM_001135602.3:c.426G>A	NP_001129074.2:p.Trp142Ter
NM_001317040.1:c.963G>A	NP_001303969.1:p.Trp321Ter
NM_001317040.2:c.963G>A	NP_001303969.2:p.Trp321Ter
NM_001393580.1:c.819G>A	NP_001380509.1:p.Trp273Ter
ENST00000307363.9:c.819G>A	ENSP00000306920.4:p.Trp273Ter
ENST00000307377.12:c.426G>A	ENSP00000305920.8:p.Trp142Ter
ENST00000399402.7:c.729G>A	ENSP00000382333.2:p.Trp243Ter
ENST00000415454.1:c.342G>A	ENSP00000411813.1:p.Trp114Ter
ENST00000438227.1:c.*311G>A	ENSP00000401250.1:n.*311G>A
ENST00000446732.5:c.*262G>A	ENSP00000407365.1:n.*262G>A
ENST00000482097.5:n.194G>A
ENST00000485698.5:n.222G>A
ENST00000498537.5:n.345G>A