Canonical Allele Identifier: CA146075

Gene: GLB1

Linked Data

• ClinVar Variation Id: 92902
• ClinVar RCV Id: RCV000078709 ; RCV000288777 ; RCV000406798 ; RCV000675678 ; RCV001512265 ; RCV001527518
• dbSNP Id: rs77226678
• ExAC: 3:33038747 C / G
• gnomAD v2: 3-33038747-C-G
• gnomAD v3: 3-32997255-C-G
• gnomAD v4: 3-32997255-C-G
• MyVariant Identifiers: chr3:g.33038747C>G (hg19) ; chr3:g.32997255C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997255C>G , CM000665.2:g.32997255C>G	GRCh38
NC_000003.11:g.33038747C>G , CM000665.1:g.33038747C>G	GRCh37
NC_000003.10:g.33013751C>G	NCBI36
NG_009005.1:g.104948G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1824G>C MANE Select	ENSP00000306920.4:p.Leu608=
ENST00000307363.9:c.1824G>C	ENSP00000306920.4:p.Leu608=
ENST00000307377.12:c.1431G>C	ENSP00000305920.8:p.Leu477=
ENST00000399402.7:c.1734G>C	ENSP00000382333.2:p.Leu578=
NM_000404.2:c.1824G>C	NP_000395.2:p.Leu608=
NM_000404.3:c.1824G>C	NP_000395.2:p.Leu608=
NM_001079811.1:c.1734G>C	NP_001073279.1:p.Leu578=
NM_001079811.2:c.1734G>C	NP_001073279.1:p.Leu578=
NM_001135602.1:c.1431G>C	NP_001129074.1:p.Leu477=
NM_001135602.2:c.1431G>C	NP_001129074.1:p.Leu477=
NM_001317040.1:c.1968G>C	NP_001303969.1:p.Leu656=
NM_000404.4:c.1824G>C MANE Select	NP_000395.3:p.Leu608=
NM_001079811.3:c.1734G>C	NP_001073279.2:p.Leu578=
NM_001135602.3:c.1431G>C	NP_001129074.2:p.Leu477=
NM_001317040.2:c.1968G>C	NP_001303969.2:p.Leu656=
NM_001393580.1:c.1734+16801G>C	NP_001380509.1:n.1734+16801G>C