Canonical Allele Identifier: CA352000794

Gene: GLB1

Linked Data

• dbSNP Id: rs2125442946
• MyVariant Identifiers: chr3:g.33038808A>C (hg19) ; chr3:g.32997316A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997316A>C , CM000665.2:g.32997316A>C	GRCh38
NC_000003.11:g.33038808A>C , CM000665.1:g.33038808A>C	GRCh37
NC_000003.10:g.33013812A>C	NCBI36
NG_009005.1:g.104887T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1763T>G MANE Select	ENSP00000306920.4:p.Leu588Arg
ENST00000307363.9:c.1763T>G	ENSP00000306920.4:p.Leu588Arg
ENST00000307377.12:c.1370T>G	ENSP00000305920.8:p.Leu457Arg
ENST00000399402.7:c.1673T>G	ENSP00000382333.2:p.Leu558Arg
NM_000404.2:c.1763T>G	NP_000395.2:p.Leu588Arg
NM_000404.3:c.1763T>G	NP_000395.2:p.Leu588Arg
NM_001079811.1:c.1673T>G	NP_001073279.1:p.Leu558Arg
NM_001079811.2:c.1673T>G	NP_001073279.1:p.Leu558Arg
NM_001135602.1:c.1370T>G	NP_001129074.1:p.Leu457Arg
NM_001135602.2:c.1370T>G	NP_001129074.1:p.Leu457Arg
NM_001317040.1:c.1907T>G	NP_001303969.1:p.Leu636Arg
NM_000404.4:c.1763T>G MANE Select	NP_000395.3:p.Leu588Arg
NM_001079811.3:c.1673T>G	NP_001073279.2:p.Leu558Arg
NM_001135602.3:c.1370T>G	NP_001129074.2:p.Leu457Arg
NM_001317040.2:c.1907T>G	NP_001303969.2:p.Leu636Arg
NM_001393580.1:c.1734+16740T>G	NP_001380509.1:n.1734+16740T>G