Canonical Allele Identifier: CA114671
Gene: GLB1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.32997307T>C
GRCh37 chr3:g.33038799T>C
Revel Score:
ENST00000399402 0.932
ENST00000307363 (MANE Select) 0.932
ENST00000445488 0.932
ENST00000307377 0.932
gnomAD v2:
3:33038799 T / C
gnomAD v4:
chr3-32997307-T-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32997307T>C , CM000665.2:g.32997307T>C GRCh38
NC_000003.11:g.33038799T>C , CM000665.1:g.33038799T>C GRCh37
NC_000003.10:g.33013803T>C NCBI36
NG_009005.1:g.104896A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.1772A>G MANE Select ENSP00000306920.4:p.Tyr591Cys
ENST00000307363.9:c.1772A>G ENSP00000306920.4:p.Tyr591Cys
ENST00000307377.12:c.1379A>G ENSP00000305920.8:p.Tyr460Cys
ENST00000399402.7:c.1682A>G ENSP00000382333.2:p.Tyr561Cys
NM_000404.2:c.1772A>G NP_000395.2:p.Tyr591Cys
NM_000404.3:c.1772A>G NP_000395.2:p.Tyr591Cys
NM_001079811.1:c.1682A>G NP_001073279.1:p.Tyr561Cys
NM_001079811.2:c.1682A>G NP_001073279.1:p.Tyr561Cys
NM_001135602.1:c.1379A>G NP_001129074.1:p.Tyr460Cys
NM_001135602.2:c.1379A>G NP_001129074.1:p.Tyr460Cys
NM_001317040.1:c.1916A>G NP_001303969.1:p.Tyr639Cys
NM_000404.4:c.1772A>G MANE Select NP_000395.3:p.Tyr591Cys
NM_001079811.3:c.1682A>G NP_001073279.2:p.Tyr561Cys
NM_001135602.3:c.1379A>G NP_001129074.2:p.Tyr460Cys
NM_001317040.2:c.1916A>G NP_001303969.2:p.Tyr639Cys
NM_001393580.1:c.1734+16749A>G NP_001380509.1:n.1734+16749A>G
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