Canonical Allele Identifier: CA2299762

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2937720
• ClinVar RCV Id: RCV003794350
• dbSNP Id: rs770440386
• ExAC: 3:33114023 C / T
• gnomAD v2: 3-33114023-C-T
• gnomAD v3: 3-33072531-C-T
• gnomAD v4: 3-33072531-C-T
• MyVariant Identifiers: chr3:g.33114023C>T (hg19) ; chr3:g.33072531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33072531C>T , CM000665.2:g.33072531C>T	GRCh38
NC_000003.11:g.33114023C>T , CM000665.1:g.33114023C>T	GRCh37
NC_000003.10:g.33089027C>T	NCBI36
NG_009005.1:g.29672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.245+13G>A MANE Select	ENSP00000306920.4:n.245+13G>A
ENST00000307363.9:c.245+13G>A	ENSP00000306920.4:n.245+13G>A
ENST00000307377.12:c.245+13G>A	ENSP00000305920.8:n.245+13G>A
ENST00000399402.7:c.155+13G>A	ENSP00000382333.2:n.155+13G>A
ENST00000415454.1:c.76-14262G>A	ENSP00000411813.1:n.76-14262G>A
ENST00000436768.1:c.389+13G>A	ENSP00000387989.1:n.389+13G>A
ENST00000438227.1:c.76-6974G>A	ENSP00000401250.1:n.76-6974G>A
ENST00000440656.1:c.-148-3561G>A	ENSP00000411769.1:n.-148-3561G>A
ENST00000446732.5:c.155+13G>A	ENSP00000407365.1:n.155+13G>A
ENST00000450835.1:c.155+13G>A	ENSP00000403264.1:n.155+13G>A
ENST00000464355.1:n.203+13G>A
ENST00000482097.5:n.109-18982G>A
ENST00000485698.5:n.137-18982G>A
ENST00000498537.5:n.133-18982G>A
NM_000404.2:c.245+13G>A	NP_000395.2:n.245+13G>A
NM_000404.3:c.245+13G>A	NP_000395.2:n.245+13G>A
NM_001079811.1:c.155+13G>A	NP_001073279.1:n.155+13G>A
NM_001079811.2:c.155+13G>A	NP_001073279.1:n.155+13G>A
NM_001135602.1:c.245+13G>A	NP_001129074.1:n.245+13G>A
NM_001135602.2:c.245+13G>A	NP_001129074.1:n.245+13G>A
NM_001317040.1:c.389+13G>A	NP_001303969.1:n.389+13G>A
NM_000404.4:c.245+13G>A MANE Select	NP_000395.3:n.245+13G>A
NM_001079811.3:c.155+13G>A	NP_001073279.2:n.155+13G>A
NM_001135602.3:c.245+13G>A	NP_001129074.2:n.245+13G>A
NM_001317040.2:c.389+13G>A	NP_001303969.2:n.389+13G>A
NM_001393580.1:c.245+13G>A	NP_001380509.1:n.245+13G>A