Canonical Allele Identifier: CA432952981

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33059946C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33018454C>A , CM000665.2:g.33018454C>A	GRCh38
NC_000003.11:g.33059946C>A , CM000665.1:g.33059946C>A	GRCh37
NC_000003.10:g.33034950C>A	NCBI36
NG_009005.1:g.83749G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1341G>T MANE Select	ENSP00000306920.4:p.Val447=
ENST00000307363.9:c.1341G>T	ENSP00000306920.4:p.Val447=
ENST00000307377.12:c.948G>T	ENSP00000305920.8:p.Val316=
ENST00000399402.7:c.1251G>T	ENSP00000382333.2:p.Val417=
ENST00000461475.5:n.440G>T
ENST00000467571.5:n.378G>T
ENST00000497796.5:n.593G>T
NM_000404.2:c.1341G>T	NP_000395.2:p.Val447=
NM_000404.3:c.1341G>T	NP_000395.2:p.Val447=
NM_001079811.1:c.1251G>T	NP_001073279.1:p.Val417=
NM_001079811.2:c.1251G>T	NP_001073279.1:p.Val417=
NM_001135602.1:c.948G>T	NP_001129074.1:p.Val316=
NM_001135602.2:c.948G>T	NP_001129074.1:p.Val316=
NM_001317040.1:c.1485G>T	NP_001303969.1:p.Val495=
NM_000404.4:c.1341G>T MANE Select	NP_000395.3:p.Val447=
NM_001079811.3:c.1251G>T	NP_001073279.2:p.Val417=
NM_001135602.3:c.948G>T	NP_001129074.2:p.Val316=
NM_001317040.2:c.1485G>T	NP_001303969.2:p.Val495=
NM_001393580.1:c.1341G>T	NP_001380509.1:p.Val447=