Canonical Allele Identifier: CA352001192

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051892C>T , CM000665.2:g.33051892C>T	GRCh38
NC_000003.11:g.33093384C>T , CM000665.1:g.33093384C>T	GRCh37
NC_000003.10:g.33068388C>T	NCBI36
NG_009005.1:g.50311G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.905G>A MANE Select	NP_000395.3:p.Ser302Asn
ENST00000307363.10:c.905G>A MANE Select	ENSP00000306920.4:p.Ser302Asn
NM_000404.2:c.905G>A	NP_000395.2:p.Ser302Asn
NM_000404.3:c.905G>A	NP_000395.2:p.Ser302Asn
NM_001079811.1:c.815G>A	NP_001073279.1:p.Ser272Asn
NM_001079811.2:c.815G>A	NP_001073279.1:p.Ser272Asn
NM_001079811.3:c.815G>A	NP_001073279.2:p.Ser272Asn
NM_001135602.1:c.512G>A	NP_001129074.1:p.Ser171Asn
NM_001135602.2:c.512G>A	NP_001129074.1:p.Ser171Asn
NM_001135602.3:c.512G>A	NP_001129074.2:p.Ser171Asn
NM_001317040.1:c.1049G>A	NP_001303969.1:p.Ser350Asn
NM_001317040.2:c.1049G>A	NP_001303969.2:p.Ser350Asn
NM_001393580.1:c.905G>A	NP_001380509.1:p.Ser302Asn
ENST00000307363.9:c.905G>A	ENSP00000306920.4:p.Ser302Asn
ENST00000307377.12:c.512G>A	ENSP00000305920.8:p.Ser171Asn
ENST00000399402.7:c.815G>A	ENSP00000382333.2:p.Ser272Asn
ENST00000415454.1:c.428G>A	ENSP00000411813.1:p.Ser143Asn
ENST00000446732.5:c.*348G>A	ENSP00000407365.1:n.*348G>A
ENST00000482097.5:n.280G>A
ENST00000485698.5:n.308G>A
ENST00000498537.5:n.431G>A