Canonical Allele Identifier: CA2299299

Gene: GLB1

Linked Data

• ClinVar Variation Id: 707293
• ClinVar RCV Id: RCV001434479
• dbSNP Id: rs373181758
• ExAC: 3:33038804 G / A
• gnomAD v2: 3-33038804-G-A
• gnomAD v3: 3-32997312-G-A
• gnomAD v4: 3-32997312-G-A
• MyVariant Identifiers: chr3:g.33038804G>A (hg19) ; chr3:g.32997312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997312G>A , CM000665.2:g.32997312G>A	GRCh38
NC_000003.11:g.33038804G>A , CM000665.1:g.33038804G>A	GRCh37
NC_000003.10:g.33013808G>A	NCBI36
NG_009005.1:g.104891C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1767C>T MANE Select	ENSP00000306920.4:p.Gly589=
ENST00000307363.9:c.1767C>T	ENSP00000306920.4:p.Gly589=
ENST00000307377.12:c.1374C>T	ENSP00000305920.8:p.Gly458=
ENST00000399402.7:c.1677C>T	ENSP00000382333.2:p.Gly559=
NM_000404.2:c.1767C>T	NP_000395.2:p.Gly589=
NM_000404.3:c.1767C>T	NP_000395.2:p.Gly589=
NM_001079811.1:c.1677C>T	NP_001073279.1:p.Gly559=
NM_001079811.2:c.1677C>T	NP_001073279.1:p.Gly559=
NM_001135602.1:c.1374C>T	NP_001129074.1:p.Gly458=
NM_001135602.2:c.1374C>T	NP_001129074.1:p.Gly458=
NM_001317040.1:c.1911C>T	NP_001303969.1:p.Gly637=
NM_000404.4:c.1767C>T MANE Select	NP_000395.3:p.Gly589=
NM_001079811.3:c.1677C>T	NP_001073279.2:p.Gly559=
NM_001135602.3:c.1374C>T	NP_001129074.2:p.Gly458=
NM_001317040.2:c.1911C>T	NP_001303969.2:p.Gly637=
NM_001393580.1:c.1734+16744C>T	NP_001380509.1:n.1734+16744C>T