Canonical Allele Identifier: CA2299474

Gene: GLB1

Linked Data

• dbSNP Id: rs762902581
• ExAC: 3:33063116 A / C
• gnomAD v4: 3-33021624-A-C
• MyVariant Identifiers: chr3:g.33063116A>C (hg19) ; chr3:g.33021624A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021624A>C , CM000665.2:g.33021624A>C	GRCh38
NC_000003.11:g.33063116A>C , CM000665.1:g.33063116A>C	GRCh37
NC_000003.10:g.33038120A>C	NCBI36
NG_009005.1:g.80579T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1175T>G MANE Select	ENSP00000306920.4:p.Leu392Arg
ENST00000307363.9:c.1175T>G	ENSP00000306920.4:p.Leu392Arg
ENST00000307377.12:c.782T>G	ENSP00000305920.8:p.Leu261Arg
ENST00000399402.7:c.1085T>G	ENSP00000382333.2:p.Leu362Arg
ENST00000461475.5:n.274T>G
ENST00000467571.5:n.212T>G
ENST00000473477.1:n.207T>G
ENST00000497796.5:n.427T>G
NM_000404.2:c.1175T>G	NP_000395.2:p.Leu392Arg
NM_000404.3:c.1175T>G	NP_000395.2:p.Leu392Arg
NM_001079811.1:c.1085T>G	NP_001073279.1:p.Leu362Arg
NM_001079811.2:c.1085T>G	NP_001073279.1:p.Leu362Arg
NM_001135602.1:c.782T>G	NP_001129074.1:p.Leu261Arg
NM_001135602.2:c.782T>G	NP_001129074.1:p.Leu261Arg
NM_001317040.1:c.1319T>G	NP_001303969.1:p.Leu440Arg
XR_001740634.1:n.1543-564A>C
NM_000404.4:c.1175T>G MANE Select	NP_000395.3:p.Leu392Arg
NM_001079811.3:c.1085T>G	NP_001073279.2:p.Leu362Arg
NM_001135602.3:c.782T>G	NP_001129074.2:p.Leu261Arg
NM_001317040.2:c.1319T>G	NP_001303969.2:p.Leu440Arg
NM_001393580.1:c.1175T>G	NP_001380509.1:p.Leu392Arg