Canonical Allele Identifier: CA2299443

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33018539C>T , CM000665.2:g.33018539C>T	GRCh38
NC_000003.11:g.33060031C>T , CM000665.1:g.33060031C>T	GRCh37
NC_000003.10:g.33035035C>T	NCBI36
NG_009005.1:g.83664G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1256G>A MANE Select	NP_000395.3:p.Arg419Gln
ENST00000307363.10:c.1256G>A MANE Select	ENSP00000306920.4:p.Arg419Gln
NM_000404.2:c.1256G>A	NP_000395.2:p.Arg419Gln
NM_000404.3:c.1256G>A	NP_000395.2:p.Arg419Gln
NM_001079811.1:c.1166G>A	NP_001073279.1:p.Arg389Gln
NM_001079811.2:c.1166G>A	NP_001073279.1:p.Arg389Gln
NM_001079811.3:c.1166G>A	NP_001073279.2:p.Arg389Gln
NM_001135602.1:c.863G>A	NP_001129074.1:p.Arg288Gln
NM_001135602.2:c.863G>A	NP_001129074.1:p.Arg288Gln
NM_001135602.3:c.863G>A	NP_001129074.2:p.Arg288Gln
NM_001317040.1:c.1400G>A	NP_001303969.1:p.Arg467Gln
NM_001317040.2:c.1400G>A	NP_001303969.2:p.Arg467Gln
NM_001393580.1:c.1256G>A	NP_001380509.1:p.Arg419Gln
ENST00000307363.9:c.1256G>A	ENSP00000306920.4:p.Arg419Gln
ENST00000307377.12:c.863G>A	ENSP00000305920.8:p.Arg288Gln
ENST00000399402.7:c.1166G>A	ENSP00000382333.2:p.Arg389Gln
ENST00000461475.5:n.355G>A
ENST00000467571.5:n.293G>A
ENST00000497796.5:n.508G>A