Canonical Allele Identifier: CA351994074

Gene: GLB1

Linked Data

• ClinVar Variation Id: 522669
• ClinVar RCV Id: RCV000625810 ; RCV002295308
• dbSNP Id: rs1553612143
• gnomAD v4: 3-33068248-G-A
• MyVariant Identifiers: chr3:g.33109740G>A (hg19) ; chr3:g.33068248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068248G>A , CM000665.2:g.33068248G>A	GRCh38
NC_000003.11:g.33109740G>A , CM000665.1:g.33109740G>A	GRCh37
NC_000003.10:g.33084744G>A	NCBI36
NG_009005.1:g.33955C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.439C>T MANE Select	ENSP00000306920.4:p.Leu147Phe
ENST00000307363.9:c.439C>T	ENSP00000306920.4:p.Leu147Phe
ENST00000307377.12:c.246-2691C>T	ENSP00000305920.8:n.246-2691C>T
ENST00000399402.7:c.349C>T	ENSP00000382333.2:p.Leu117Phe
ENST00000415454.1:c.76-9979C>T	ENSP00000411813.1:n.76-9979C>T
ENST00000438227.1:c.76-2691C>T	ENSP00000401250.1:n.76-2691C>T
ENST00000440656.1:c.46C>T	ENSP00000411769.1:p.Leu16Phe
ENST00000446732.5:c.156-2691C>T	ENSP00000407365.1:n.156-2691C>T
ENST00000464355.1:n.397C>T
ENST00000482097.5:n.109-14699C>T
ENST00000485698.5:n.137-14699C>T
ENST00000498537.5:n.133-14699C>T
NM_000404.2:c.439C>T	NP_000395.2:p.Leu147Phe
NM_000404.3:c.439C>T	NP_000395.2:p.Leu147Phe
NM_001079811.1:c.349C>T	NP_001073279.1:p.Leu117Phe
NM_001079811.2:c.349C>T	NP_001073279.1:p.Leu117Phe
NM_001135602.1:c.246-2691C>T	NP_001129074.1:n.246-2691C>T
NM_001135602.2:c.246-2691C>T	NP_001129074.1:n.246-2691C>T
NM_001317040.1:c.583C>T	NP_001303969.1:p.Leu195Phe
NM_000404.4:c.439C>T MANE Select	NP_000395.3:p.Leu147Phe
NM_001079811.3:c.349C>T	NP_001073279.2:p.Leu117Phe
NM_001135602.3:c.246-2691C>T	NP_001129074.2:n.246-2691C>T
NM_001317040.2:c.583C>T	NP_001303969.2:p.Leu195Phe
NM_001393580.1:c.439C>T	NP_001380509.1:p.Leu147Phe