Canonical Allele Identifier: CA2299627

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058106G>A , CM000665.2:g.33058106G>A	GRCh38
NC_000003.11:g.33099598G>A , CM000665.1:g.33099598G>A	GRCh37
NC_000003.10:g.33074602G>A	NCBI36
NG_009005.1:g.44097C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.716C>T MANE Select	NP_000395.3:p.Thr239Met
ENST00000307363.10:c.716C>T MANE Select	ENSP00000306920.4:p.Thr239Met
NM_000404.2:c.716C>T	NP_000395.2:p.Thr239Met
NM_000404.3:c.716C>T	NP_000395.2:p.Thr239Met
NM_001079811.1:c.626C>T	NP_001073279.1:p.Thr209Met
NM_001079811.2:c.626C>T	NP_001073279.1:p.Thr209Met
NM_001079811.3:c.626C>T	NP_001073279.2:p.Thr209Met
NM_001135602.1:c.341-4557C>T	NP_001129074.1:n.341-4557C>T
NM_001135602.2:c.341-4557C>T	NP_001129074.1:n.341-4557C>T
NM_001135602.3:c.341-4557C>T	NP_001129074.2:n.341-4557C>T
NM_001317040.1:c.860C>T	NP_001303969.1:p.Thr287Met
NM_001317040.2:c.860C>T	NP_001303969.2:p.Thr287Met
NM_001393580.1:c.716C>T	NP_001380509.1:p.Thr239Met
ENST00000307363.9:c.716C>T	ENSP00000306920.4:p.Thr239Met
ENST00000307377.12:c.341-4557C>T	ENSP00000305920.8:n.341-4557C>T
ENST00000399402.7:c.626C>T	ENSP00000382333.2:p.Thr209Met
ENST00000415454.1:c.239C>T	ENSP00000411813.1:p.Thr80Met
ENST00000438227.1:c.*208C>T	ENSP00000401250.1:n.*208C>T
ENST00000440656.1:c.323C>T	ENSP00000411769.1:p.Thr108Met
ENST00000446732.5:c.*159C>T	ENSP00000407365.1:n.*159C>T
ENST00000482097.5:n.109-4557C>T
ENST00000485698.5:n.137-4557C>T
ENST00000498537.5:n.133-4557C>T