Canonical Allele Identifier: CA2299703
Gene: GLB1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.33068245G>T
GRCh37 chr3:g.33109737G>T
Revel Score:
ENST00000399402 0.946
ENST00000307363 (MANE Select) 0.946
ENST00000445488 0.946
ENST00000440656 0.946
gnomAD v2:
3:33109737 G / T
gnomAD v3:
3:33068245 G / T
gnomAD v4:
chr3-33068245-G-T
Joint Max Group AF 0.0000884 (NFE)
Genomes Max Group AF 0.00009048 (NFE)
Exomes Max Group AF 0.00008396 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33068245G>T , CM000665.2:g.33068245G>T GRCh38
NC_000003.11:g.33109737G>T , CM000665.1:g.33109737G>T GRCh37
NC_000003.10:g.33084741G>T NCBI36
NG_009005.1:g.33958C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.442C>A MANE Select ENSP00000306920.4:p.Arg148Ser
ENST00000307363.9:c.442C>A ENSP00000306920.4:p.Arg148Ser
ENST00000307377.12:c.246-2688C>A ENSP00000305920.8:n.246-2688C>A
ENST00000399402.7:c.352C>A ENSP00000382333.2:p.Arg118Ser
ENST00000415454.1:c.76-9976C>A ENSP00000411813.1:n.76-9976C>A
ENST00000438227.1:c.76-2688C>A ENSP00000401250.1:n.76-2688C>A
ENST00000440656.1:c.49C>A ENSP00000411769.1:p.Arg17Ser
ENST00000446732.5:c.156-2688C>A ENSP00000407365.1:n.156-2688C>A
ENST00000464355.1:n.400C>A
ENST00000482097.5:n.109-14696C>A
ENST00000485698.5:n.137-14696C>A
ENST00000498537.5:n.133-14696C>A
NM_000404.2:c.442C>A NP_000395.2:p.Arg148Ser
NM_000404.3:c.442C>A NP_000395.2:p.Arg148Ser
NM_001079811.1:c.352C>A NP_001073279.1:p.Arg118Ser
NM_001079811.2:c.352C>A NP_001073279.1:p.Arg118Ser
NM_001135602.1:c.246-2688C>A NP_001129074.1:n.246-2688C>A
NM_001135602.2:c.246-2688C>A NP_001129074.1:n.246-2688C>A
NM_001317040.1:c.586C>A NP_001303969.1:p.Arg196Ser
NM_000404.4:c.442C>A MANE Select NP_000395.3:p.Arg148Ser
NM_001079811.3:c.352C>A NP_001073279.2:p.Arg118Ser
NM_001135602.3:c.246-2688C>A NP_001129074.2:n.246-2688C>A
NM_001317040.2:c.586C>A NP_001303969.2:p.Arg196Ser
NM_001393580.1:c.442C>A NP_001380509.1:p.Arg148Ser
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