Canonical Allele Identifier: CA352004830

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058250C>A , CM000665.2:g.33058250C>A	GRCh38
NC_000003.11:g.33099742C>A , CM000665.1:g.33099742C>A	GRCh37
NC_000003.10:g.33074746C>A	NCBI36
NG_009005.1:g.43953G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.572G>T MANE Select	NP_000395.3:p.Ser191Ile
ENST00000307363.10:c.572G>T MANE Select	ENSP00000306920.4:p.Ser191Ile
NM_000404.2:c.572G>T	NP_000395.2:p.Ser191Ile
NM_000404.3:c.572G>T	NP_000395.2:p.Ser191Ile
NM_001079811.1:c.482G>T	NP_001073279.1:p.Ser161Ile
NM_001079811.2:c.482G>T	NP_001073279.1:p.Ser161Ile
NM_001079811.3:c.482G>T	NP_001073279.2:p.Ser161Ile
NM_001135602.1:c.341-4701G>T	NP_001129074.1:n.341-4701G>T
NM_001135602.2:c.341-4701G>T	NP_001129074.1:n.341-4701G>T
NM_001135602.3:c.341-4701G>T	NP_001129074.2:n.341-4701G>T
NM_001317040.1:c.716G>T	NP_001303969.1:p.Ser239Ile
NM_001317040.2:c.716G>T	NP_001303969.2:p.Ser239Ile
NM_001393580.1:c.572G>T	NP_001380509.1:p.Ser191Ile
ENST00000307363.9:c.572G>T	ENSP00000306920.4:p.Ser191Ile
ENST00000307377.12:c.341-4701G>T	ENSP00000305920.8:n.341-4701G>T
ENST00000399402.7:c.482G>T	ENSP00000382333.2:p.Ser161Ile
ENST00000415454.1:c.95G>T	ENSP00000411813.1:p.Ser32Ile
ENST00000438227.1:c.*64G>T	ENSP00000401250.1:n.*64G>T
ENST00000440656.1:c.179G>T	ENSP00000411769.1:p.Ser60Ile
ENST00000446732.5:c.*15G>T	ENSP00000407365.1:n.*15G>T
ENST00000482097.5:n.109-4701G>T
ENST00000485698.5:n.137-4701G>T
ENST00000498537.5:n.133-4701G>T