Canonical Allele Identifier: CA114640
Gene: GLB1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.33016818C>T
GRCh37 chr3:g.33058310C>T
Revel Score:
ENST00000399402 0.837
ENST00000307363 (MANE Select) 0.837
ENST00000445488 0.837
ENST00000307377 0.837
gnomAD v2:
3:33058310 C / T
gnomAD v3:
3:33016818 C / T
gnomAD v4:
chr3-33016818-C-T
Joint Max Group AF 0.00001772 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33016818C>T , CM000665.2:g.33016818C>T GRCh38
NC_000003.11:g.33058310C>T , CM000665.1:g.33058310C>T GRCh37
NC_000003.10:g.33033314C>T NCBI36
NG_009005.1:g.85385G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.1370G>A MANE Select ENSP00000306920.4:p.Arg457Gln
ENST00000307363.9:c.1370G>A ENSP00000306920.4:p.Arg457Gln
ENST00000307377.12:c.977G>A ENSP00000305920.8:p.Arg326Gln
ENST00000399402.7:c.1280G>A ENSP00000382333.2:p.Arg427Gln
ENST00000461475.5:n.469G>A
ENST00000467571.5:n.407G>A
ENST00000497796.5:n.622G>A
NM_000404.2:c.1370G>A NP_000395.2:p.Arg457Gln
NM_000404.3:c.1370G>A NP_000395.2:p.Arg457Gln
NM_001079811.1:c.1280G>A NP_001073279.1:p.Arg427Gln
NM_001079811.2:c.1280G>A NP_001073279.1:p.Arg427Gln
NM_001135602.1:c.977G>A NP_001129074.1:p.Arg326Gln
NM_001135602.2:c.977G>A NP_001129074.1:p.Arg326Gln
NM_001317040.1:c.1514G>A NP_001303969.1:p.Arg505Gln
NM_000404.4:c.1370G>A MANE Select NP_000395.3:p.Arg457Gln
NM_001079811.3:c.1280G>A NP_001073279.2:p.Arg427Gln
NM_001135602.3:c.977G>A NP_001129074.2:p.Arg326Gln
NM_001317040.2:c.1514G>A NP_001303969.2:p.Arg505Gln
NM_001393580.1:c.1370G>A NP_001380509.1:p.Arg457Gln
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