Canonical Allele Identifier: CA2299771

Gene: GLB1

Linked Data

• ClinVar Variation Id: 1926010
• ClinVar RCV Id: RCV002604990
• dbSNP Id: rs767562424
• ExAC: 3:33114092 G / C
• gnomAD v2: 3-33114092-G-C
• gnomAD v4: 3-33072600-G-C
• MyVariant Identifiers: chr3:g.33114092G>C (hg19) ; chr3:g.33072600G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33072600G>C , CM000665.2:g.33072600G>C	GRCh38
NC_000003.11:g.33114092G>C , CM000665.1:g.33114092G>C	GRCh37
NC_000003.10:g.33089096G>C	NCBI36
NG_009005.1:g.29603C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.189C>G MANE Select	ENSP00000306920.4:p.Phe63Leu
ENST00000307363.9:c.189C>G	ENSP00000306920.4:p.Phe63Leu
ENST00000307377.12:c.189C>G	ENSP00000305920.8:p.Phe63Leu
ENST00000399402.7:c.99C>G	ENSP00000382333.2:p.Phe33Leu
ENST00000415454.1:c.76-14331C>G	ENSP00000411813.1:n.76-14331C>G
ENST00000436768.1:c.333C>G	ENSP00000387989.1:p.Phe111Leu
ENST00000438227.1:c.76-7043C>G	ENSP00000401250.1:n.76-7043C>G
ENST00000440656.1:c.-148-3630C>G	ENSP00000411769.1:n.-148-3630C>G
ENST00000446732.5:c.99C>G	ENSP00000407365.1:p.Phe33Leu
ENST00000450835.1:c.99C>G	ENSP00000403264.1:p.Phe33Leu
ENST00000464355.1:n.147C>G
ENST00000482097.5:n.109-19051C>G
ENST00000485698.5:n.137-19051C>G
ENST00000498537.5:n.133-19051C>G
NM_000404.2:c.189C>G	NP_000395.2:p.Phe63Leu
NM_000404.3:c.189C>G	NP_000395.2:p.Phe63Leu
NM_001079811.1:c.99C>G	NP_001073279.1:p.Phe33Leu
NM_001079811.2:c.99C>G	NP_001073279.1:p.Phe33Leu
NM_001135602.1:c.189C>G	NP_001129074.1:p.Phe63Leu
NM_001135602.2:c.189C>G	NP_001129074.1:p.Phe63Leu
NM_001317040.1:c.333C>G	NP_001303969.1:p.Phe111Leu
NM_000404.4:c.189C>G MANE Select	NP_000395.3:p.Phe63Leu
NM_001079811.3:c.99C>G	NP_001073279.2:p.Phe33Leu
NM_001135602.3:c.189C>G	NP_001129074.2:p.Phe63Leu
NM_001317040.2:c.333C>G	NP_001303969.2:p.Phe111Leu
NM_001393580.1:c.189C>G	NP_001380509.1:p.Phe63Leu