Canonical Allele Identifier: CA2299707

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068263T>A , CM000665.2:g.33068263T>A	GRCh38
NC_000003.11:g.33109755T>A , CM000665.1:g.33109755T>A	GRCh37
NC_000003.10:g.33084759T>A	NCBI36
NG_009005.1:g.33940A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.424A>T MANE Select	NP_000395.3:p.Lys142Ter
ENST00000307363.10:c.424A>T MANE Select	ENSP00000306920.4:p.Lys142Ter
NM_000404.2:c.424A>T	NP_000395.2:p.Lys142Ter
NM_000404.3:c.424A>T	NP_000395.2:p.Lys142Ter
NM_001079811.1:c.334A>T	NP_001073279.1:p.Lys112Ter
NM_001079811.2:c.334A>T	NP_001073279.1:p.Lys112Ter
NM_001079811.3:c.334A>T	NP_001073279.2:p.Lys112Ter
NM_001135602.1:c.246-2706A>T	NP_001129074.1:n.246-2706A>T
NM_001135602.2:c.246-2706A>T	NP_001129074.1:n.246-2706A>T
NM_001135602.3:c.246-2706A>T	NP_001129074.2:n.246-2706A>T
NM_001317040.1:c.568A>T	NP_001303969.1:p.Lys190Ter
NM_001317040.2:c.568A>T	NP_001303969.2:p.Lys190Ter
NM_001393580.1:c.424A>T	NP_001380509.1:p.Lys142Ter
ENST00000307363.9:c.424A>T	ENSP00000306920.4:p.Lys142Ter
ENST00000307377.12:c.246-2706A>T	ENSP00000305920.8:n.246-2706A>T
ENST00000399402.7:c.334A>T	ENSP00000382333.2:p.Lys112Ter
ENST00000415454.1:c.76-9994A>T	ENSP00000411813.1:n.76-9994A>T
ENST00000438227.1:c.76-2706A>T	ENSP00000401250.1:n.76-2706A>T
ENST00000440656.1:c.31A>T	ENSP00000411769.1:p.Lys11Ter
ENST00000446732.5:c.156-2706A>T	ENSP00000407365.1:n.156-2706A>T
ENST00000464355.1:n.382A>T
ENST00000482097.5:n.109-14714A>T
ENST00000485698.5:n.137-14714A>T
ENST00000498537.5:n.133-14714A>T