Canonical Allele Identifier: CA352000775

Gene: GLB1

Linked Data

• dbSNP Id: rs1559375011
• gnomAD v4: 3-32997304-C-T
• MyVariant Identifiers: chr3:g.33038796C>T (hg19) ; chr3:g.32997304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997304C>T , CM000665.2:g.32997304C>T	GRCh38
NC_000003.11:g.33038796C>T , CM000665.1:g.33038796C>T	GRCh37
NC_000003.10:g.33013800C>T	NCBI36
NG_009005.1:g.104899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1775G>A MANE Select	ENSP00000306920.4:p.Trp592Ter
ENST00000307363.9:c.1775G>A	ENSP00000306920.4:p.Trp592Ter
ENST00000307377.12:c.1382G>A	ENSP00000305920.8:p.Trp461Ter
ENST00000399402.7:c.1685G>A	ENSP00000382333.2:p.Trp562Ter
NM_000404.2:c.1775G>A	NP_000395.2:p.Trp592Ter
NM_000404.3:c.1775G>A	NP_000395.2:p.Trp592Ter
NM_001079811.1:c.1685G>A	NP_001073279.1:p.Trp562Ter
NM_001079811.2:c.1685G>A	NP_001073279.1:p.Trp562Ter
NM_001135602.1:c.1382G>A	NP_001129074.1:p.Trp461Ter
NM_001135602.2:c.1382G>A	NP_001129074.1:p.Trp461Ter
NM_001317040.1:c.1919G>A	NP_001303969.1:p.Trp640Ter
NM_000404.4:c.1775G>A MANE Select	NP_000395.3:p.Trp592Ter
NM_001079811.3:c.1685G>A	NP_001073279.2:p.Trp562Ter
NM_001135602.3:c.1382G>A	NP_001129074.2:p.Trp461Ter
NM_001317040.2:c.1919G>A	NP_001303969.2:p.Trp640Ter
NM_001393580.1:c.1734+16752G>A	NP_001380509.1:n.1734+16752G>A