Canonical Allele Identifier: CA432952578

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2108140
• ClinVar RCV Id: RCV003034013
• gnomAD v4: 3-33014110-A-G
• MyVariant Identifiers: chr3:g.33055602A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014110A>G , CM000665.2:g.33014110A>G	GRCh38
NC_000003.11:g.33055602A>G , CM000665.1:g.33055602A>G	GRCh37
NC_000003.10:g.33030606A>G	NCBI36
NG_009005.1:g.88093T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1680T>C MANE Select	ENSP00000306920.4:p.Ser560=
ENST00000307363.9:c.1680T>C	ENSP00000306920.4:p.Ser560=
ENST00000307377.12:c.1287T>C	ENSP00000305920.8:p.Ser429=
ENST00000399402.7:c.1590T>C	ENSP00000382333.2:p.Ser530=
ENST00000461475.5:n.779T>C
NM_000404.2:c.1680T>C	NP_000395.2:p.Ser560=
NM_000404.3:c.1680T>C	NP_000395.2:p.Ser560=
NM_001079811.1:c.1590T>C	NP_001073279.1:p.Ser530=
NM_001079811.2:c.1590T>C	NP_001073279.1:p.Ser530=
NM_001135602.1:c.1287T>C	NP_001129074.1:p.Ser429=
NM_001135602.2:c.1287T>C	NP_001129074.1:p.Ser429=
NM_001317040.1:c.1824T>C	NP_001303969.1:p.Ser608=
NM_000404.4:c.1680T>C MANE Select	NP_000395.3:p.Ser560=
NM_001079811.3:c.1590T>C	NP_001073279.2:p.Ser530=
NM_001135602.3:c.1287T>C	NP_001129074.2:p.Ser429=
NM_001317040.2:c.1824T>C	NP_001303969.2:p.Ser608=
NM_001393580.1:c.1680T>C	NP_001380509.1:p.Ser560=