Canonical Allele Identifier: CA352000819

Gene: GLB1

Linked Data

• ClinVar Variation Id: 1428950
• ClinVar RCV Id: RCV001936564
• dbSNP Id: rs1291361971
• gnomAD v3: 3-32997326-C-T
• gnomAD v4: 3-32997326-C-T
• MyVariant Identifiers: chr3:g.33038818C>T (hg19) ; chr3:g.32997326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997326C>T , CM000665.2:g.32997326C>T	GRCh38
NC_000003.11:g.33038818C>T , CM000665.1:g.33038818C>T	GRCh37
NC_000003.10:g.33013822C>T	NCBI36
NG_009005.1:g.104877G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1753G>A MANE Select	ENSP00000306920.4:p.Gly585Ser
ENST00000307363.9:c.1753G>A	ENSP00000306920.4:p.Gly585Ser
ENST00000307377.12:c.1360G>A	ENSP00000305920.8:p.Gly454Ser
ENST00000399402.7:c.1663G>A	ENSP00000382333.2:p.Gly555Ser
NM_000404.2:c.1753G>A	NP_000395.2:p.Gly585Ser
NM_000404.3:c.1753G>A	NP_000395.2:p.Gly585Ser
NM_001079811.1:c.1663G>A	NP_001073279.1:p.Gly555Ser
NM_001079811.2:c.1663G>A	NP_001073279.1:p.Gly555Ser
NM_001135602.1:c.1360G>A	NP_001129074.1:p.Gly454Ser
NM_001135602.2:c.1360G>A	NP_001129074.1:p.Gly454Ser
NM_001317040.1:c.1897G>A	NP_001303969.1:p.Gly633Ser
NM_000404.4:c.1753G>A MANE Select	NP_000395.3:p.Gly585Ser
NM_001079811.3:c.1663G>A	NP_001073279.2:p.Gly555Ser
NM_001135602.3:c.1360G>A	NP_001129074.2:p.Gly454Ser
NM_001317040.2:c.1897G>A	NP_001303969.2:p.Gly633Ser
NM_001393580.1:c.1734+16730G>A	NP_001380509.1:n.1734+16730G>A