Canonical Allele Identifier: CA2299308

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2156417
• ClinVar RCV Id: RCV003084134
• dbSNP Id: rs768696404
• ExAC: 3:33038848 G / C
• gnomAD v2: 3-33038848-G-C
• gnomAD v3: 3-32997356-G-C
• gnomAD v4: 3-32997356-G-C
• MyVariant Identifiers: chr3:g.33038848G>C (hg19) ; chr3:g.32997356G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997356G>C , CM000665.2:g.32997356G>C	GRCh38
NC_000003.11:g.33038848G>C , CM000665.1:g.33038848G>C	GRCh37
NC_000003.10:g.33013852G>C	NCBI36
NG_009005.1:g.104847C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1735-12C>G MANE Select	ENSP00000306920.4:n.1735-12C>G
ENST00000307363.9:c.1735-12C>G	ENSP00000306920.4:n.1735-12C>G
ENST00000307377.12:c.1342-12C>G	ENSP00000305920.8:n.1342-12C>G
ENST00000399402.7:c.1645-12C>G	ENSP00000382333.2:n.1645-12C>G
NM_000404.2:c.1735-12C>G	NP_000395.2:n.1735-12C>G
NM_000404.3:c.1735-12C>G	NP_000395.2:n.1735-12C>G
NM_001079811.1:c.1645-12C>G	NP_001073279.1:n.1645-12C>G
NM_001079811.2:c.1645-12C>G	NP_001073279.1:n.1645-12C>G
NM_001135602.1:c.1342-12C>G	NP_001129074.1:n.1342-12C>G
NM_001135602.2:c.1342-12C>G	NP_001129074.1:n.1342-12C>G
NM_001317040.1:c.1879-12C>G	NP_001303969.1:n.1879-12C>G
NM_000404.4:c.1735-12C>G MANE Select	NP_000395.3:n.1735-12C>G
NM_001079811.3:c.1645-12C>G	NP_001073279.2:n.1645-12C>G
NM_001135602.3:c.1342-12C>G	NP_001129074.2:n.1342-12C>G
NM_001317040.2:c.1879-12C>G	NP_001303969.2:n.1879-12C>G
NM_001393580.1:c.1734+16700C>G	NP_001380509.1:n.1734+16700C>G