Canonical Allele Identifier: CA432960179

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2051810
• ClinVar RCV Id: RCV002927537
• dbSNP Id: rs1289878163
• gnomAD v2: 3-33038624-G-A
• gnomAD v3: 3-32997132-G-A
• gnomAD v4: 3-32997132-G-A
• COSMIC: COSM3592492 ; COSM3592493
• MyVariant Identifiers: chr3:g.33038624G>A (hg19) ; chr3:g.32997132G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997132G>A , CM000665.2:g.32997132G>A	GRCh38
NC_000003.11:g.33038624G>A , CM000665.1:g.33038624G>A	GRCh37
NC_000003.10:g.33013628G>A	NCBI36
NG_009005.1:g.105071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1947C>T MANE Select	ENSP00000306920.4:p.Thr649=
ENST00000307363.9:c.1947C>T	ENSP00000306920.4:p.Thr649=
ENST00000307377.12:c.1554C>T	ENSP00000305920.8:p.Thr518=
ENST00000399402.7:c.1857C>T	ENSP00000382333.2:p.Thr619=
NM_000404.2:c.1947C>T	NP_000395.2:p.Thr649=
NM_000404.3:c.1947C>T	NP_000395.2:p.Thr649=
NM_001079811.1:c.1857C>T	NP_001073279.1:p.Thr619=
NM_001079811.2:c.1857C>T	NP_001073279.1:p.Thr619=
NM_001135602.1:c.1554C>T	NP_001129074.1:p.Thr518=
NM_001135602.2:c.1554C>T	NP_001129074.1:p.Thr518=
NM_001317040.1:c.2091C>T	NP_001303969.1:p.Thr697=
NM_000404.4:c.1947C>T MANE Select	NP_000395.3:p.Thr649=
NM_001079811.3:c.1857C>T	NP_001073279.2:p.Thr619=
NM_001135602.3:c.1554C>T	NP_001129074.2:p.Thr518=
NM_001317040.2:c.2091C>T	NP_001303969.2:p.Thr697=
NM_001393580.1:c.1734+16924C>T	NP_001380509.1:n.1734+16924C>T