Canonical Allele Identifier: CA2299629

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058111G>A , CM000665.2:g.33058111G>A	GRCh38
NC_000003.11:g.33099603G>A , CM000665.1:g.33099603G>A	GRCh37
NC_000003.10:g.33074607G>A	NCBI36
NG_009005.1:g.44092C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.711C>T MANE Select	NP_000395.3:p.Tyr237=
ENST00000307363.10:c.711C>T MANE Select	ENSP00000306920.4:p.Tyr237=
NM_000404.2:c.711C>T	NP_000395.2:p.Tyr237=
NM_000404.3:c.711C>T	NP_000395.2:p.Tyr237=
NM_001079811.1:c.621C>T	NP_001073279.1:p.Tyr207=
NM_001079811.2:c.621C>T	NP_001073279.1:p.Tyr207=
NM_001079811.3:c.621C>T	NP_001073279.2:p.Tyr207=
NM_001135602.1:c.341-4562C>T	NP_001129074.1:n.341-4562C>T
NM_001135602.2:c.341-4562C>T	NP_001129074.1:n.341-4562C>T
NM_001135602.3:c.341-4562C>T	NP_001129074.2:n.341-4562C>T
NM_001317040.1:c.855C>T	NP_001303969.1:p.Tyr285=
NM_001317040.2:c.855C>T	NP_001303969.2:p.Tyr285=
NM_001393580.1:c.711C>T	NP_001380509.1:p.Tyr237=
ENST00000307363.9:c.711C>T	ENSP00000306920.4:p.Tyr237=
ENST00000307377.12:c.341-4562C>T	ENSP00000305920.8:n.341-4562C>T
ENST00000399402.7:c.621C>T	ENSP00000382333.2:p.Tyr207=
ENST00000415454.1:c.234C>T	ENSP00000411813.1:p.Tyr78=
ENST00000438227.1:c.*203C>T	ENSP00000401250.1:n.*203C>T
ENST00000440656.1:c.318C>T	ENSP00000411769.1:p.Tyr106=
ENST00000446732.5:c.*154C>T	ENSP00000407365.1:n.*154C>T
ENST00000482097.5:n.109-4562C>T
ENST00000485698.5:n.137-4562C>T
ENST00000498537.5:n.133-4562C>T