Canonical Allele Identifier: CA432953542

Gene: GLB1

Linked Data

• ClinVar Variation Id: 1566921
• ClinVar RCV Id: RCV002207654
• dbSNP Id: rs1159059066
• MyVariant Identifiers: chr3:g.33063076T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021584T>C , CM000665.2:g.33021584T>C	GRCh38
NC_000003.11:g.33063076T>C , CM000665.1:g.33063076T>C	GRCh37
NC_000003.10:g.33038080T>C	NCBI36
NG_009005.1:g.80619A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1215A>G MANE Select	ENSP00000306920.4:p.Thr405=
ENST00000307363.9:c.1215A>G	ENSP00000306920.4:p.Thr405=
ENST00000307377.12:c.822A>G	ENSP00000305920.8:p.Thr274=
ENST00000399402.7:c.1125A>G	ENSP00000382333.2:p.Thr375=
ENST00000461475.5:n.314A>G
ENST00000467571.5:n.252A>G
ENST00000473477.1:n.247A>G
ENST00000497796.5:n.467A>G
NM_000404.2:c.1215A>G	NP_000395.2:p.Thr405=
NM_000404.3:c.1215A>G	NP_000395.2:p.Thr405=
NM_001079811.1:c.1125A>G	NP_001073279.1:p.Thr375=
NM_001079811.2:c.1125A>G	NP_001073279.1:p.Thr375=
NM_001135602.1:c.822A>G	NP_001129074.1:p.Thr274=
NM_001135602.2:c.822A>G	NP_001129074.1:p.Thr274=
NM_001317040.1:c.1359A>G	NP_001303969.1:p.Thr453=
XR_001740634.1:n.1543-604T>C
NM_000404.4:c.1215A>G MANE Select	NP_000395.3:p.Thr405=
NM_001079811.3:c.1125A>G	NP_001073279.2:p.Thr375=
NM_001135602.3:c.822A>G	NP_001129074.2:p.Thr274=
NM_001317040.2:c.1359A>G	NP_001303969.2:p.Thr453=
NM_001393580.1:c.1215A>G	NP_001380509.1:p.Thr405=