Canonical Allele Identifier: CA351992542

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33018541G>C , CM000665.2:g.33018541G>C	GRCh38
NC_000003.11:g.33060033G>C , CM000665.1:g.33060033G>C	GRCh37
NC_000003.10:g.33035037G>C	NCBI36
NG_009005.1:g.83662C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1254C>G MANE Select	NP_000395.3:p.Tyr418Ter
ENST00000307363.10:c.1254C>G MANE Select	ENSP00000306920.4:p.Tyr418Ter
NM_000404.2:c.1254C>G	NP_000395.2:p.Tyr418Ter
NM_000404.3:c.1254C>G	NP_000395.2:p.Tyr418Ter
NM_001079811.1:c.1164C>G	NP_001073279.1:p.Tyr388Ter
NM_001079811.2:c.1164C>G	NP_001073279.1:p.Tyr388Ter
NM_001079811.3:c.1164C>G	NP_001073279.2:p.Tyr388Ter
NM_001135602.1:c.861C>G	NP_001129074.1:p.Tyr287Ter
NM_001135602.2:c.861C>G	NP_001129074.1:p.Tyr287Ter
NM_001135602.3:c.861C>G	NP_001129074.2:p.Tyr287Ter
NM_001317040.1:c.1398C>G	NP_001303969.1:p.Tyr466Ter
NM_001317040.2:c.1398C>G	NP_001303969.2:p.Tyr466Ter
NM_001393580.1:c.1254C>G	NP_001380509.1:p.Tyr418Ter
ENST00000307363.9:c.1254C>G	ENSP00000306920.4:p.Tyr418Ter
ENST00000307377.12:c.861C>G	ENSP00000305920.8:p.Tyr287Ter
ENST00000399402.7:c.1164C>G	ENSP00000382333.2:p.Tyr388Ter
ENST00000461475.5:n.353C>G
ENST00000467571.5:n.291C>G
ENST00000497796.5:n.506C>G