Canonical Allele Identifier: CA352001172

Gene: GLB1

Linked Data

• dbSNP Id: rs1294362274
• gnomAD v2: 3-33093381-A-G
• gnomAD v4: 3-33051889-A-G
• MyVariant Identifiers: chr3:g.33093381A>G (hg19) ; chr3:g.33051889A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051889A>G , CM000665.2:g.33051889A>G	GRCh38
NC_000003.11:g.33093381A>G , CM000665.1:g.33093381A>G	GRCh37
NC_000003.10:g.33068385A>G	NCBI36
NG_009005.1:g.50314T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.908T>C MANE Select	ENSP00000306920.4:p.Val303Ala
ENST00000307363.9:c.908T>C	ENSP00000306920.4:p.Val303Ala
ENST00000307377.12:c.515T>C	ENSP00000305920.8:p.Val172Ala
ENST00000399402.7:c.818T>C	ENSP00000382333.2:p.Val273Ala
ENST00000415454.1:c.431T>C	ENSP00000411813.1:p.Val144Ala
ENST00000446732.5:c.*351T>C	ENSP00000407365.1:n.*351T>C
ENST00000482097.5:n.283T>C
ENST00000485698.5:n.311T>C
ENST00000498537.5:n.434T>C
NM_000404.2:c.908T>C	NP_000395.2:p.Val303Ala
NM_000404.3:c.908T>C	NP_000395.2:p.Val303Ala
NM_001079811.1:c.818T>C	NP_001073279.1:p.Val273Ala
NM_001079811.2:c.818T>C	NP_001073279.1:p.Val273Ala
NM_001135602.1:c.515T>C	NP_001129074.1:p.Val172Ala
NM_001135602.2:c.515T>C	NP_001129074.1:p.Val172Ala
NM_001317040.1:c.1052T>C	NP_001303969.1:p.Val351Ala
NM_000404.4:c.908T>C MANE Select	NP_000395.3:p.Val303Ala
NM_001079811.3:c.818T>C	NP_001073279.2:p.Val273Ala
NM_001135602.3:c.515T>C	NP_001129074.2:p.Val172Ala
NM_001317040.2:c.1052T>C	NP_001303969.2:p.Val351Ala
NM_001393580.1:c.908T>C	NP_001380509.1:p.Val303Ala