Canonical Allele Identifier: CA352001072

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051795G>C , CM000665.2:g.33051795G>C	GRCh38
NC_000003.11:g.33093287G>C , CM000665.1:g.33093287G>C	GRCh37
NC_000003.10:g.33068291G>C	NCBI36
NG_009005.1:g.50408C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.918C>G MANE Select	NP_000395.3:p.Tyr306Ter
ENST00000307363.10:c.918C>G MANE Select	ENSP00000306920.4:p.Tyr306Ter
NM_000404.2:c.918C>G	NP_000395.2:p.Tyr306Ter
NM_000404.3:c.918C>G	NP_000395.2:p.Tyr306Ter
NM_001079811.1:c.828C>G	NP_001073279.1:p.Tyr276Ter
NM_001079811.2:c.828C>G	NP_001073279.1:p.Tyr276Ter
NM_001079811.3:c.828C>G	NP_001073279.2:p.Tyr276Ter
NM_001135602.1:c.525C>G	NP_001129074.1:p.Tyr175Ter
NM_001135602.2:c.525C>G	NP_001129074.1:p.Tyr175Ter
NM_001135602.3:c.525C>G	NP_001129074.2:p.Tyr175Ter
NM_001317040.1:c.1062C>G	NP_001303969.1:p.Tyr354Ter
NM_001317040.2:c.1062C>G	NP_001303969.2:p.Tyr354Ter
NM_001393580.1:c.918C>G	NP_001380509.1:p.Tyr306Ter
ENST00000307363.9:c.918C>G	ENSP00000306920.4:p.Tyr306Ter
ENST00000307377.12:c.525C>G	ENSP00000305920.8:p.Tyr175Ter
ENST00000399402.7:c.828C>G	ENSP00000382333.2:p.Tyr276Ter
ENST00000415454.1:c.441C>G	ENSP00000411813.1:p.Tyr147Ter
ENST00000482097.5:n.293C>G
ENST00000485698.5:n.321C>G
ENST00000498537.5:n.444C>G