Canonical Allele Identifier: CA2299298

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2151971
• ClinVar RCV Id: RCV003079045
• dbSNP Id: rs72555373
• ExAC: 3:33038800 A / G
• gnomAD v2: 3-33038800-A-G
• gnomAD v3: 3-32997308-A-G
• gnomAD v4: 3-32997308-A-G
• MyVariant Identifiers: chr3:g.33038800A>G (hg19) ; chr3:g.32997308A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997308A>G , CM000665.2:g.32997308A>G	GRCh38
NC_000003.11:g.33038800A>G , CM000665.1:g.33038800A>G	GRCh37
NC_000003.10:g.33013804A>G	NCBI36
NG_009005.1:g.104895T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1771T>C MANE Select	ENSP00000306920.4:p.Tyr591His
ENST00000307363.9:c.1771T>C	ENSP00000306920.4:p.Tyr591His
ENST00000307377.12:c.1378T>C	ENSP00000305920.8:p.Tyr460His
ENST00000399402.7:c.1681T>C	ENSP00000382333.2:p.Tyr561His
NM_000404.2:c.1771T>C	NP_000395.2:p.Tyr591His
NM_000404.3:c.1771T>C	NP_000395.2:p.Tyr591His
NM_001079811.1:c.1681T>C	NP_001073279.1:p.Tyr561His
NM_001079811.2:c.1681T>C	NP_001073279.1:p.Tyr561His
NM_001135602.1:c.1378T>C	NP_001129074.1:p.Tyr460His
NM_001135602.2:c.1378T>C	NP_001129074.1:p.Tyr460His
NM_001317040.1:c.1915T>C	NP_001303969.1:p.Tyr639His
NM_000404.4:c.1771T>C MANE Select	NP_000395.3:p.Tyr591His
NM_001079811.3:c.1681T>C	NP_001073279.2:p.Tyr561His
NM_001135602.3:c.1378T>C	NP_001129074.2:p.Tyr460His
NM_001317040.2:c.1915T>C	NP_001303969.2:p.Tyr639His
NM_001393580.1:c.1734+16748T>C	NP_001380509.1:n.1734+16748T>C