Canonical Allele Identifier: CA352000355

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2063069
• ClinVar RCV Id: RCV002948177
• dbSNP Id: rs1696340552
• gnomAD v3: 3-32997182-G-C
• gnomAD v4: 3-32997182-G-C
• MyVariant Identifiers: chr3:g.33038674G>C (hg19) ; chr3:g.32997182G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997182G>C , CM000665.2:g.32997182G>C	GRCh38
NC_000003.11:g.33038674G>C , CM000665.1:g.33038674G>C	GRCh37
NC_000003.10:g.33013678G>C	NCBI36
NG_009005.1:g.105021C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1897C>G MANE Select	ENSP00000306920.4:p.Leu633Val
ENST00000307363.9:c.1897C>G	ENSP00000306920.4:p.Leu633Val
ENST00000307377.12:c.1504C>G	ENSP00000305920.8:p.Leu502Val
ENST00000399402.7:c.1807C>G	ENSP00000382333.2:p.Leu603Val
NM_000404.2:c.1897C>G	NP_000395.2:p.Leu633Val
NM_000404.3:c.1897C>G	NP_000395.2:p.Leu633Val
NM_001079811.1:c.1807C>G	NP_001073279.1:p.Leu603Val
NM_001079811.2:c.1807C>G	NP_001073279.1:p.Leu603Val
NM_001135602.1:c.1504C>G	NP_001129074.1:p.Leu502Val
NM_001135602.2:c.1504C>G	NP_001129074.1:p.Leu502Val
NM_001317040.1:c.2041C>G	NP_001303969.1:p.Leu681Val
NM_000404.4:c.1897C>G MANE Select	NP_000395.3:p.Leu633Val
NM_001079811.3:c.1807C>G	NP_001073279.2:p.Leu603Val
NM_001135602.3:c.1504C>G	NP_001129074.2:p.Leu502Val
NM_001317040.2:c.2041C>G	NP_001303969.2:p.Leu681Val
NM_001393580.1:c.1734+16874C>G	NP_001380509.1:n.1734+16874C>G