Canonical Allele Identifier: CA2299444

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33018540G>A , CM000665.2:g.33018540G>A	GRCh38
NC_000003.11:g.33060032G>A , CM000665.1:g.33060032G>A	GRCh37
NC_000003.10:g.33035036G>A	NCBI36
NG_009005.1:g.83663C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1255C>T MANE Select	NP_000395.3:p.Arg419Trp
ENST00000307363.10:c.1255C>T MANE Select	ENSP00000306920.4:p.Arg419Trp
NM_000404.2:c.1255C>T	NP_000395.2:p.Arg419Trp
NM_000404.3:c.1255C>T	NP_000395.2:p.Arg419Trp
NM_001079811.1:c.1165C>T	NP_001073279.1:p.Arg389Trp
NM_001079811.2:c.1165C>T	NP_001073279.1:p.Arg389Trp
NM_001079811.3:c.1165C>T	NP_001073279.2:p.Arg389Trp
NM_001135602.1:c.862C>T	NP_001129074.1:p.Arg288Trp
NM_001135602.2:c.862C>T	NP_001129074.1:p.Arg288Trp
NM_001135602.3:c.862C>T	NP_001129074.2:p.Arg288Trp
NM_001317040.1:c.1399C>T	NP_001303969.1:p.Arg467Trp
NM_001317040.2:c.1399C>T	NP_001303969.2:p.Arg467Trp
NM_001393580.1:c.1255C>T	NP_001380509.1:p.Arg419Trp
ENST00000307363.9:c.1255C>T	ENSP00000306920.4:p.Arg419Trp
ENST00000307377.12:c.862C>T	ENSP00000305920.8:p.Arg288Trp
ENST00000399402.7:c.1165C>T	ENSP00000382333.2:p.Arg389Trp
ENST00000461475.5:n.354C>T
ENST00000467571.5:n.292C>T
ENST00000497796.5:n.507C>T