Canonical Allele Identifier: CA2299283

Gene: GLB1

Linked Data

• ClinVar Variation Id: 767268
• ClinVar RCV Id: RCV000945970
• dbSNP Id: rs748948967
• ExAC: 3:33038710 G / A
• gnomAD v2: 3-33038710-G-A
• gnomAD v3: 3-32997218-G-A
• gnomAD v4: 3-32997218-G-A
• MyVariant Identifiers: chr3:g.33038710G>A (hg19) ; chr3:g.32997218G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997218G>A , CM000665.2:g.32997218G>A	GRCh38
NC_000003.11:g.33038710G>A , CM000665.1:g.33038710G>A	GRCh37
NC_000003.10:g.33013714G>A	NCBI36
NG_009005.1:g.104985C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1861C>T MANE Select	ENSP00000306920.4:p.Leu621=
ENST00000307363.9:c.1861C>T	ENSP00000306920.4:p.Leu621=
ENST00000307377.12:c.1468C>T	ENSP00000305920.8:p.Leu490=
ENST00000399402.7:c.1771C>T	ENSP00000382333.2:p.Leu591=
NM_000404.2:c.1861C>T	NP_000395.2:p.Leu621=
NM_000404.3:c.1861C>T	NP_000395.2:p.Leu621=
NM_001079811.1:c.1771C>T	NP_001073279.1:p.Leu591=
NM_001079811.2:c.1771C>T	NP_001073279.1:p.Leu591=
NM_001135602.1:c.1468C>T	NP_001129074.1:p.Leu490=
NM_001135602.2:c.1468C>T	NP_001129074.1:p.Leu490=
NM_001317040.1:c.2005C>T	NP_001303969.1:p.Leu669=
NM_000404.4:c.1861C>T MANE Select	NP_000395.3:p.Leu621=
NM_001079811.3:c.1771C>T	NP_001073279.2:p.Leu591=
NM_001135602.3:c.1468C>T	NP_001129074.2:p.Leu490=
NM_001317040.2:c.2005C>T	NP_001303969.2:p.Leu669=
NM_001393580.1:c.1734+16838C>T	NP_001380509.1:n.1734+16838C>T