Canonical Allele Identifier: CA201540

Gene: GLB1

Linked Data

• ClinVar Variation Id: 92900
• ClinVar RCV Id: RCV000671504 ; RCV000675686 ; RCV002513824 ; RCV003987350
• dbSNP Id: rs398123350
• MyVariant Identifiers: chr3:g.33114110G>C (hg19) ; chr3:g.33072618G>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33072618G>C , CM000665.2:g.33072618G>C	GRCh38
NC_000003.11:g.33114110G>C , CM000665.1:g.33114110G>C	GRCh37
NC_000003.10:g.33089114G>C	NCBI36
NG_009005.1:g.29585C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.171C>G MANE Select	ENSP00000306920.4:p.Tyr57Ter
ENST00000307363.9:c.171C>G	ENSP00000306920.4:p.Tyr57Ter
ENST00000307377.12:c.171C>G	ENSP00000305920.8:p.Tyr57Ter
ENST00000399402.7:c.81C>G	ENSP00000382333.2:p.Tyr27Ter
ENST00000415454.1:c.76-14349C>G	ENSP00000411813.1:n.76-14349C>G
ENST00000436768.1:c.315C>G	ENSP00000387989.1:p.Tyr105Ter
ENST00000438227.1:c.76-7061C>G	ENSP00000401250.1:n.76-7061C>G
ENST00000440656.1:c.-148-3648C>G	ENSP00000411769.1:n.-148-3648C>G
ENST00000446732.5:c.81C>G	ENSP00000407365.1:p.Tyr27Ter
ENST00000450835.1:c.81C>G	ENSP00000403264.1:p.Tyr27Ter
ENST00000464355.1:n.129C>G
ENST00000482097.5:n.109-19069C>G
ENST00000485698.5:n.137-19069C>G
ENST00000498537.5:n.133-19069C>G
NM_000404.2:c.171C>G	NP_000395.2:p.Tyr57Ter
NM_000404.3:c.171C>G	NP_000395.2:p.Tyr57Ter
NM_001079811.1:c.81C>G	NP_001073279.1:p.Tyr27Ter
NM_001079811.2:c.81C>G	NP_001073279.1:p.Tyr27Ter
NM_001135602.1:c.171C>G	NP_001129074.1:p.Tyr57Ter
NM_001135602.2:c.171C>G	NP_001129074.1:p.Tyr57Ter
NM_001317040.1:c.315C>G	NP_001303969.1:p.Tyr105Ter
NM_000404.4:c.171C>G MANE Select	NP_000395.3:p.Tyr57Ter
NM_001079811.3:c.81C>G	NP_001073279.2:p.Tyr27Ter
NM_001135602.3:c.171C>G	NP_001129074.2:p.Tyr57Ter
NM_001317040.2:c.315C>G	NP_001303969.2:p.Tyr105Ter
NM_001393580.1:c.171C>G	NP_001380509.1:p.Tyr57Ter