Canonical Allele Identifier: CA432959691

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33099618G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058126G>T , CM000665.2:g.33058126G>T	GRCh38
NC_000003.11:g.33099618G>T , CM000665.1:g.33099618G>T	GRCh37
NC_000003.10:g.33074622G>T	NCBI36
NG_009005.1:g.44077C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.696C>A MANE Select	ENSP00000306920.4:p.Ala232=
ENST00000307363.9:c.696C>A	ENSP00000306920.4:p.Ala232=
ENST00000307377.12:c.341-4577C>A	ENSP00000305920.8:n.341-4577C>A
ENST00000399402.7:c.606C>A	ENSP00000382333.2:p.Ala202=
ENST00000415454.1:c.219C>A	ENSP00000411813.1:p.Ala73=
ENST00000438227.1:c.*188C>A	ENSP00000401250.1:n.*188C>A
ENST00000440656.1:c.303C>A	ENSP00000411769.1:p.Ala101=
ENST00000446732.5:c.*139C>A	ENSP00000407365.1:n.*139C>A
ENST00000482097.5:n.109-4577C>A
ENST00000485698.5:n.137-4577C>A
ENST00000498537.5:n.133-4577C>A
NM_000404.2:c.696C>A	NP_000395.2:p.Ala232=
NM_000404.3:c.696C>A	NP_000395.2:p.Ala232=
NM_001079811.1:c.606C>A	NP_001073279.1:p.Ala202=
NM_001079811.2:c.606C>A	NP_001073279.1:p.Ala202=
NM_001135602.1:c.341-4577C>A	NP_001129074.1:n.341-4577C>A
NM_001135602.2:c.341-4577C>A	NP_001129074.1:n.341-4577C>A
NM_001317040.1:c.840C>A	NP_001303969.1:p.Ala280=
NM_000404.4:c.696C>A MANE Select	NP_000395.3:p.Ala232=
NM_001079811.3:c.606C>A	NP_001073279.2:p.Ala202=
NM_001135602.3:c.341-4577C>A	NP_001129074.2:n.341-4577C>A
NM_001317040.2:c.840C>A	NP_001303969.2:p.Ala280=
NM_001393580.1:c.696C>A	NP_001380509.1:p.Ala232=