Canonical Allele Identifier: CA2299284

Gene: GLB1

Linked Data

• dbSNP Id: rs748948967
• ExAC: 3:33038710 G / C
• gnomAD v2: 3-33038710-G-C
• gnomAD v4: 3-32997218-G-C
• MyVariant Identifiers: chr3:g.33038710G>C (hg19) ; chr3:g.32997218G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997218G>C , CM000665.2:g.32997218G>C	GRCh38
NC_000003.11:g.33038710G>C , CM000665.1:g.33038710G>C	GRCh37
NC_000003.10:g.33013714G>C	NCBI36
NG_009005.1:g.104985C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1861C>G MANE Select	ENSP00000306920.4:p.Leu621Val
ENST00000307363.9:c.1861C>G	ENSP00000306920.4:p.Leu621Val
ENST00000307377.12:c.1468C>G	ENSP00000305920.8:p.Leu490Val
ENST00000399402.7:c.1771C>G	ENSP00000382333.2:p.Leu591Val
NM_000404.2:c.1861C>G	NP_000395.2:p.Leu621Val
NM_000404.3:c.1861C>G	NP_000395.2:p.Leu621Val
NM_001079811.1:c.1771C>G	NP_001073279.1:p.Leu591Val
NM_001079811.2:c.1771C>G	NP_001073279.1:p.Leu591Val
NM_001135602.1:c.1468C>G	NP_001129074.1:p.Leu490Val
NM_001135602.2:c.1468C>G	NP_001129074.1:p.Leu490Val
NM_001317040.1:c.2005C>G	NP_001303969.1:p.Leu669Val
NM_000404.4:c.1861C>G MANE Select	NP_000395.3:p.Leu621Val
NM_001079811.3:c.1771C>G	NP_001073279.2:p.Leu591Val
NM_001135602.3:c.1468C>G	NP_001129074.2:p.Leu490Val
NM_001317040.2:c.2005C>G	NP_001303969.2:p.Leu669Val
NM_001393580.1:c.1734+16838C>G	NP_001380509.1:n.1734+16838C>G