Canonical Allele Identifier: CA351988815

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33016743C>A , CM000665.2:g.33016743C>A	GRCh38
NC_000003.11:g.33058235C>A , CM000665.1:g.33058235C>A	GRCh37
NC_000003.10:g.33033239C>A	NCBI36
NG_009005.1:g.85460G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1445G>T MANE Select	NP_000395.3:p.Arg482Leu
ENST00000307363.10:c.1445G>T MANE Select	ENSP00000306920.4:p.Arg482Leu
NM_000404.2:c.1445G>T	NP_000395.2:p.Arg482Leu
NM_000404.3:c.1445G>T	NP_000395.2:p.Arg482Leu
NM_001079811.1:c.1355G>T	NP_001073279.1:p.Arg452Leu
NM_001079811.2:c.1355G>T	NP_001073279.1:p.Arg452Leu
NM_001079811.3:c.1355G>T	NP_001073279.2:p.Arg452Leu
NM_001135602.1:c.1052G>T	NP_001129074.1:p.Arg351Leu
NM_001135602.2:c.1052G>T	NP_001129074.1:p.Arg351Leu
NM_001135602.3:c.1052G>T	NP_001129074.2:p.Arg351Leu
NM_001317040.1:c.1589G>T	NP_001303969.1:p.Arg530Leu
NM_001317040.2:c.1589G>T	NP_001303969.2:p.Arg530Leu
NM_001393580.1:c.1445G>T	NP_001380509.1:p.Arg482Leu
ENST00000307363.9:c.1445G>T	ENSP00000306920.4:p.Arg482Leu
ENST00000307377.12:c.1052G>T	ENSP00000305920.8:p.Arg351Leu
ENST00000399402.7:c.1355G>T	ENSP00000382333.2:p.Arg452Leu
ENST00000461475.5:n.544G>T
ENST00000467571.5:n.482G>T
ENST00000497796.5:n.697G>T