Canonical Allele Identifier: CA352000294

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33038659A>T (hg19) ; chr3:g.32997167A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997167A>T , CM000665.2:g.32997167A>T	GRCh38
NC_000003.11:g.33038659A>T , CM000665.1:g.33038659A>T	GRCh37
NC_000003.10:g.33013663A>T	NCBI36
NG_009005.1:g.105036T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1912T>A MANE Select	ENSP00000306920.4:p.Phe638Ile
ENST00000307363.9:c.1912T>A	ENSP00000306920.4:p.Phe638Ile
ENST00000307377.12:c.1519T>A	ENSP00000305920.8:p.Phe507Ile
ENST00000399402.7:c.1822T>A	ENSP00000382333.2:p.Phe608Ile
NM_000404.2:c.1912T>A	NP_000395.2:p.Phe638Ile
NM_000404.3:c.1912T>A	NP_000395.2:p.Phe638Ile
NM_001079811.1:c.1822T>A	NP_001073279.1:p.Phe608Ile
NM_001079811.2:c.1822T>A	NP_001073279.1:p.Phe608Ile
NM_001135602.1:c.1519T>A	NP_001129074.1:p.Phe507Ile
NM_001135602.2:c.1519T>A	NP_001129074.1:p.Phe507Ile
NM_001317040.1:c.2056T>A	NP_001303969.1:p.Phe686Ile
NM_000404.4:c.1912T>A MANE Select	NP_000395.3:p.Phe638Ile
NM_001079811.3:c.1822T>A	NP_001073279.2:p.Phe608Ile
NM_001135602.3:c.1519T>A	NP_001129074.2:p.Phe507Ile
NM_001317040.2:c.2056T>A	NP_001303969.2:p.Phe686Ile
NM_001393580.1:c.1734+16889T>A	NP_001380509.1:n.1734+16889T>A