Canonical Allele Identifier: CA352001035

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33093281A>T (hg19) ; chr3:g.33051789A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051789A>T , CM000665.2:g.33051789A>T	GRCh38
NC_000003.11:g.33093281A>T , CM000665.1:g.33093281A>T	GRCh37
NC_000003.10:g.33068285A>T	NCBI36
NG_009005.1:g.50414T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.924T>A MANE Select	ENSP00000306920.4:p.Phe308Leu
ENST00000307363.9:c.924T>A	ENSP00000306920.4:p.Phe308Leu
ENST00000307377.12:c.531T>A	ENSP00000305920.8:p.Phe177Leu
ENST00000399402.7:c.834T>A	ENSP00000382333.2:p.Phe278Leu
ENST00000415454.1:c.447T>A	ENSP00000411813.1:p.Phe149Leu
ENST00000482097.5:n.299T>A
ENST00000485698.5:n.327T>A
ENST00000498537.5:n.450T>A
NM_000404.2:c.924T>A	NP_000395.2:p.Phe308Leu
NM_000404.3:c.924T>A	NP_000395.2:p.Phe308Leu
NM_001079811.1:c.834T>A	NP_001073279.1:p.Phe278Leu
NM_001079811.2:c.834T>A	NP_001073279.1:p.Phe278Leu
NM_001135602.1:c.531T>A	NP_001129074.1:p.Phe177Leu
NM_001135602.2:c.531T>A	NP_001129074.1:p.Phe177Leu
NM_001317040.1:c.1068T>A	NP_001303969.1:p.Phe356Leu
NM_000404.4:c.924T>A MANE Select	NP_000395.3:p.Phe308Leu
NM_001079811.3:c.834T>A	NP_001073279.2:p.Phe278Leu
NM_001135602.3:c.531T>A	NP_001129074.2:p.Phe177Leu
NM_001317040.2:c.1068T>A	NP_001303969.2:p.Phe356Leu
NM_001393580.1:c.924T>A	NP_001380509.1:p.Phe308Leu