Canonical Allele Identifier: CA2299699

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068236C>T , CM000665.2:g.33068236C>T	GRCh38
NC_000003.11:g.33109728C>T , CM000665.1:g.33109728C>T	GRCh37
NC_000003.10:g.33084732C>T	NCBI36
NG_009005.1:g.33967G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.451G>A MANE Select	NP_000395.3:p.Asp151Asn
ENST00000307363.10:c.451G>A MANE Select	ENSP00000306920.4:p.Asp151Asn
NM_000404.2:c.451G>A	NP_000395.2:p.Asp151Asn
NM_000404.3:c.451G>A	NP_000395.2:p.Asp151Asn
NM_001079811.1:c.361G>A	NP_001073279.1:p.Asp121Asn
NM_001079811.2:c.361G>A	NP_001073279.1:p.Asp121Asn
NM_001079811.3:c.361G>A	NP_001073279.2:p.Asp121Asn
NM_001135602.1:c.246-2679G>A	NP_001129074.1:n.246-2679G>A
NM_001135602.2:c.246-2679G>A	NP_001129074.1:n.246-2679G>A
NM_001135602.3:c.246-2679G>A	NP_001129074.2:n.246-2679G>A
NM_001317040.1:c.595G>A	NP_001303969.1:p.Asp199Asn
NM_001317040.2:c.595G>A	NP_001303969.2:p.Asp199Asn
NM_001393580.1:c.451G>A	NP_001380509.1:p.Asp151Asn
ENST00000307363.9:c.451G>A	ENSP00000306920.4:p.Asp151Asn
ENST00000307377.12:c.246-2679G>A	ENSP00000305920.8:n.246-2679G>A
ENST00000399402.7:c.361G>A	ENSP00000382333.2:p.Asp121Asn
ENST00000415454.1:c.76-9967G>A	ENSP00000411813.1:n.76-9967G>A
ENST00000438227.1:c.76-2679G>A	ENSP00000401250.1:n.76-2679G>A
ENST00000440656.1:c.58G>A	ENSP00000411769.1:p.Asp20Asn
ENST00000446732.5:c.156-2679G>A	ENSP00000407365.1:n.156-2679G>A
ENST00000464355.1:n.409G>A
ENST00000482097.5:n.109-14687G>A
ENST00000485698.5:n.137-14687G>A
ENST00000498537.5:n.133-14687G>A