Canonical Allele Identifier: CA352000843

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2951049
• ClinVar RCV Id: RCV003802311
• MyVariant Identifiers: chr3:g.33038829A>C (hg19) ; chr3:g.32997337A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997337A>C , CM000665.2:g.32997337A>C	GRCh38
NC_000003.11:g.33038829A>C , CM000665.1:g.33038829A>C	GRCh37
NC_000003.10:g.33013833A>C	NCBI36
NG_009005.1:g.104866T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1742T>G MANE Select	ENSP00000306920.4:p.Val581Gly
ENST00000307363.9:c.1742T>G	ENSP00000306920.4:p.Val581Gly
ENST00000307377.12:c.1349T>G	ENSP00000305920.8:p.Val450Gly
ENST00000399402.7:c.1652T>G	ENSP00000382333.2:p.Val551Gly
NM_000404.2:c.1742T>G	NP_000395.2:p.Val581Gly
NM_000404.3:c.1742T>G	NP_000395.2:p.Val581Gly
NM_001079811.1:c.1652T>G	NP_001073279.1:p.Val551Gly
NM_001079811.2:c.1652T>G	NP_001073279.1:p.Val551Gly
NM_001135602.1:c.1349T>G	NP_001129074.1:p.Val450Gly
NM_001135602.2:c.1349T>G	NP_001129074.1:p.Val450Gly
NM_001317040.1:c.1886T>G	NP_001303969.1:p.Val629Gly
NM_000404.4:c.1742T>G MANE Select	NP_000395.3:p.Val581Gly
NM_001079811.3:c.1652T>G	NP_001073279.2:p.Val551Gly
NM_001135602.3:c.1349T>G	NP_001129074.2:p.Val450Gly
NM_001317040.2:c.1886T>G	NP_001303969.2:p.Val629Gly
NM_001393580.1:c.1734+16719T>G	NP_001380509.1:n.1734+16719T>G