Canonical Allele Identifier: CA351988871

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33016750T>C , CM000665.2:g.33016750T>C	GRCh38
NC_000003.11:g.33058242T>C , CM000665.1:g.33058242T>C	GRCh37
NC_000003.10:g.33033246T>C	NCBI36
NG_009005.1:g.85453A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1438A>G MANE Select	NP_000395.3:p.Met480Val
ENST00000307363.10:c.1438A>G MANE Select	ENSP00000306920.4:p.Met480Val
NM_000404.2:c.1438A>G	NP_000395.2:p.Met480Val
NM_000404.3:c.1438A>G	NP_000395.2:p.Met480Val
NM_001079811.1:c.1348A>G	NP_001073279.1:p.Met450Val
NM_001079811.2:c.1348A>G	NP_001073279.1:p.Met450Val
NM_001079811.3:c.1348A>G	NP_001073279.2:p.Met450Val
NM_001135602.1:c.1045A>G	NP_001129074.1:p.Met349Val
NM_001135602.2:c.1045A>G	NP_001129074.1:p.Met349Val
NM_001135602.3:c.1045A>G	NP_001129074.2:p.Met349Val
NM_001317040.1:c.1582A>G	NP_001303969.1:p.Met528Val
NM_001317040.2:c.1582A>G	NP_001303969.2:p.Met528Val
NM_001393580.1:c.1438A>G	NP_001380509.1:p.Met480Val
ENST00000307363.9:c.1438A>G	ENSP00000306920.4:p.Met480Val
ENST00000307377.12:c.1045A>G	ENSP00000305920.8:p.Met349Val
ENST00000399402.7:c.1348A>G	ENSP00000382333.2:p.Met450Val
ENST00000461475.5:n.537A>G
ENST00000467571.5:n.475A>G
ENST00000497796.5:n.690A>G