Canonical Allele Identifier: CA432953544

Gene: GLB1

Linked Data

• ClinVar Variation Id: 1138461
• ClinVar RCV Id: RCV001474827
• dbSNP Id: rs1159059066
• gnomAD v2: 3-33063076-T-G
• gnomAD v4: 3-33021584-T-G
• MyVariant Identifiers: chr3:g.33063076T>G (hg19) ; chr3:g.33021584T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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