Canonical Allele Identifier: CA351986265

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014229A>C , CM000665.2:g.33014229A>C	GRCh38
NC_000003.11:g.33055721A>C , CM000665.1:g.33055721A>C	GRCh37
NC_000003.10:g.33030725A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1561T>G MANE Select	ENSP00000306920.4:p.Cys521Gly
ENST00000307363.9:c.1561T>G	ENSP00000306920.4:p.Cys521Gly
ENST00000307377.12:c.1168T>G	ENSP00000305920.8:p.Cys390Gly
ENST00000399402.7:c.1471T>G	ENSP00000382333.2:p.Cys491Gly
ENST00000461475.5:n.660T>G
ENST00000497796.5:n.813T>G
NM_000404.4:c.1561T>G MANE Select	NP_000395.3:p.Cys521Gly
NM_001079811.3:c.1471T>G	NP_001073279.2:p.Cys491Gly
NM_001135602.3:c.1168T>G	NP_001129074.2:p.Cys390Gly
NM_001317040.2:c.1705T>G	NP_001303969.2:p.Cys569Gly
NM_001393580.1:c.1561T>G	NP_001380509.1:p.Cys521Gly