Canonical Allele Identifier: CA2299305
Gene: GLB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1952156
ClinVar RCV Id: RCV002676770
dbSNP Id: rs772741040
gnomAD v2: 3-33038844-G-C
gnomAD v4: 3-32997352-G-C

Genomic Alleles

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

Transcript Alleles

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