Canonical Allele Identifier: CA2499216659

Gene: GLB1

Linked Data

• ClinVar Variation Id: 1097217
• ClinVar RCV Id: RCV001418693
• dbSNP Id: rs772741040
• gnomAD v4: 3-32997352-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997352G>A , CM000665.2:g.32997352G>A	GRCh38
NC_000003.11:g.33038844G>A , CM000665.1:g.33038844G>A	GRCh37
NC_000003.10:g.33013848G>A	NCBI36
NG_009005.1:g.104851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1735-8C>T MANE Select	ENSP00000306920.4:n.1735-8C>T
ENST00000307363.9:c.1735-8C>T	ENSP00000306920.4:n.1735-8C>T
ENST00000307377.12:c.1342-8C>T	ENSP00000305920.8:n.1342-8C>T
ENST00000399402.7:c.1645-8C>T	ENSP00000382333.2:n.1645-8C>T
NM_000404.2:c.1735-8C>T	NP_000395.2:n.1735-8C>T
NM_000404.3:c.1735-8C>T	NP_000395.2:n.1735-8C>T
NM_001079811.1:c.1645-8C>T	NP_001073279.1:n.1645-8C>T
NM_001079811.2:c.1645-8C>T	NP_001073279.1:n.1645-8C>T
NM_001135602.1:c.1342-8C>T	NP_001129074.1:n.1342-8C>T
NM_001135602.2:c.1342-8C>T	NP_001129074.1:n.1342-8C>T
NM_001317040.1:c.1879-8C>T	NP_001303969.1:n.1879-8C>T
NM_000404.4:c.1735-8C>T MANE Select	NP_000395.3:n.1735-8C>T
NM_001079811.3:c.1645-8C>T	NP_001073279.2:n.1645-8C>T
NM_001135602.3:c.1342-8C>T	NP_001129074.2:n.1342-8C>T
NM_001317040.2:c.1879-8C>T	NP_001303969.2:n.1879-8C>T
NM_001393580.1:c.1734+16704C>T	NP_001380509.1:n.1734+16704C>T