Canonical Allele Identifier: CA432953563
Gene: GLB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.33063082G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33021590G>A , CM000665.2:g.33021590G>A GRCh38
NC_000003.11:g.33063082G>A , CM000665.1:g.33063082G>A GRCh37
NC_000003.10:g.33038086G>A NCBI36
NG_009005.1:g.80613C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.1209C>T MANE Select ENSP00000306920.4:p.Pro403=
ENST00000307363.9:c.1209C>T ENSP00000306920.4:p.Pro403=
ENST00000307377.12:c.816C>T ENSP00000305920.8:p.Pro272=
ENST00000399402.7:c.1119C>T ENSP00000382333.2:p.Pro373=
ENST00000461475.5:n.308C>T
ENST00000467571.5:n.246C>T
ENST00000473477.1:n.241C>T
ENST00000497796.5:n.461C>T
NM_000404.2:c.1209C>T NP_000395.2:p.Pro403=
NM_000404.3:c.1209C>T NP_000395.2:p.Pro403=
NM_001079811.1:c.1119C>T NP_001073279.1:p.Pro373=
NM_001079811.2:c.1119C>T NP_001073279.1:p.Pro373=
NM_001135602.1:c.816C>T NP_001129074.1:p.Pro272=
NM_001135602.2:c.816C>T NP_001129074.1:p.Pro272=
NM_001317040.1:c.1353C>T NP_001303969.1:p.Pro451=
XR_001740634.1:n.1543-598G>A
NM_000404.4:c.1209C>T MANE Select NP_000395.3:p.Pro403=
NM_001079811.3:c.1119C>T NP_001073279.2:p.Pro373=
NM_001135602.3:c.816C>T NP_001129074.2:p.Pro272=
NM_001317040.2:c.1353C>T NP_001303969.2:p.Pro451=
NM_001393580.1:c.1209C>T NP_001380509.1:p.Pro403=