Canonical Allele Identifier: CA352000492

Gene: GLB1

Linked Data

• dbSNP Id: rs1374792458
• MyVariant Identifiers: chr3:g.33038704A>G (hg19) ; chr3:g.32997212A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997212A>G , CM000665.2:g.32997212A>G	GRCh38
NC_000003.11:g.33038704A>G , CM000665.1:g.33038704A>G	GRCh37
NC_000003.10:g.33013708A>G	NCBI36
NG_009005.1:g.104991T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1867T>C MANE Select	ENSP00000306920.4:p.Trp623Arg
ENST00000307363.9:c.1867T>C	ENSP00000306920.4:p.Trp623Arg
ENST00000307377.12:c.1474T>C	ENSP00000305920.8:p.Trp492Arg
ENST00000399402.7:c.1777T>C	ENSP00000382333.2:p.Trp593Arg
NM_000404.2:c.1867T>C	NP_000395.2:p.Trp623Arg
NM_000404.3:c.1867T>C	NP_000395.2:p.Trp623Arg
NM_001079811.1:c.1777T>C	NP_001073279.1:p.Trp593Arg
NM_001079811.2:c.1777T>C	NP_001073279.1:p.Trp593Arg
NM_001135602.1:c.1474T>C	NP_001129074.1:p.Trp492Arg
NM_001135602.2:c.1474T>C	NP_001129074.1:p.Trp492Arg
NM_001317040.1:c.2011T>C	NP_001303969.1:p.Trp671Arg
NM_000404.4:c.1867T>C MANE Select	NP_000395.3:p.Trp623Arg
NM_001079811.3:c.1777T>C	NP_001073279.2:p.Trp593Arg
NM_001135602.3:c.1474T>C	NP_001129074.2:p.Trp492Arg
NM_001317040.2:c.2011T>C	NP_001303969.2:p.Trp671Arg
NM_001393580.1:c.1734+16844T>C	NP_001380509.1:n.1734+16844T>C