Canonical Allele Identifier: CA2299321

Gene: GLB1

Linked Data

• ClinVar Variation Id: 252985
• ClinVar RCV Id: RCV000239412 ; RCV000665995 ; RCV001061617 ; RCV001200664 ; RCV001192992 ; RCV002518537
• dbSNP Id: rs371582179
• ExAC: 3:33055549 T / C
• gnomAD v2: 3-33055549-T-C
• gnomAD v3: 3-33014057-T-C
• gnomAD v4: 3-33014057-T-C
• MyVariant Identifiers: chr3:g.33055549T>C (hg19) ; chr3:g.33014057T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014057T>C , CM000665.2:g.33014057T>C	GRCh38
NC_000003.11:g.33055549T>C , CM000665.1:g.33055549T>C	GRCh37
NC_000003.10:g.33030553T>C	NCBI36
NG_009005.1:g.88146A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1733A>G MANE Select	ENSP00000306920.4:p.Lys578Arg
ENST00000307363.9:c.1733A>G	ENSP00000306920.4:p.Lys578Arg
ENST00000307377.12:c.1340A>G	ENSP00000305920.8:p.Lys447Arg
ENST00000399402.7:c.1643A>G	ENSP00000382333.2:p.Lys548Arg
NM_000404.2:c.1733A>G	NP_000395.2:p.Lys578Arg
NM_000404.3:c.1733A>G	NP_000395.2:p.Lys578Arg
NM_001079811.1:c.1643A>G	NP_001073279.1:p.Lys548Arg
NM_001079811.2:c.1643A>G	NP_001073279.1:p.Lys548Arg
NM_001135602.1:c.1340A>G	NP_001129074.1:p.Lys447Arg
NM_001135602.2:c.1340A>G	NP_001129074.1:p.Lys447Arg
NM_001317040.1:c.1877A>G	NP_001303969.1:p.Lys626Arg
NM_000404.4:c.1733A>G MANE Select	NP_000395.3:p.Lys578Arg
NM_001079811.3:c.1643A>G	NP_001073279.2:p.Lys548Arg
NM_001135602.3:c.1340A>G	NP_001129074.2:p.Lys447Arg
NM_001317040.2:c.1877A>G	NP_001303969.2:p.Lys626Arg
NM_001393580.1:c.1733A>G	NP_001380509.1:p.Lys578Arg