Canonical Allele Identifier: CA432960308
Gene: GLB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.33038714C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32997222C>T , CM000665.2:g.32997222C>T GRCh38
NC_000003.11:g.33038714C>T , CM000665.1:g.33038714C>T GRCh37
NC_000003.10:g.33013718C>T NCBI36
NG_009005.1:g.104981G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307363.10:c.1857G>A MANE Select ENSP00000306920.4:p.Leu619=
ENST00000307363.9:c.1857G>A ENSP00000306920.4:p.Leu619=
ENST00000307377.12:c.1464G>A ENSP00000305920.8:p.Leu488=
ENST00000399402.7:c.1767G>A ENSP00000382333.2:p.Leu589=
NM_000404.2:c.1857G>A NP_000395.2:p.Leu619=
NM_000404.3:c.1857G>A NP_000395.2:p.Leu619=
NM_001079811.1:c.1767G>A NP_001073279.1:p.Leu589=
NM_001079811.2:c.1767G>A NP_001073279.1:p.Leu589=
NM_001135602.1:c.1464G>A NP_001129074.1:p.Leu488=
NM_001135602.2:c.1464G>A NP_001129074.1:p.Leu488=
NM_001317040.1:c.2001G>A NP_001303969.1:p.Leu667=
NM_000404.4:c.1857G>A MANE Select NP_000395.3:p.Leu619=
NM_001079811.3:c.1767G>A NP_001073279.2:p.Leu589=
NM_001135602.3:c.1464G>A NP_001129074.2:p.Leu488=
NM_001317040.2:c.2001G>A NP_001303969.2:p.Leu667=
NM_001393580.1:c.1734+16834G>A NP_001380509.1:n.1734+16834G>A