Canonical Allele Identifier: CA10056416
Gene: TSPEAR HGNC NCBI
TSPEAR-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.44509256T>C
GRCh37 chr21:g.45929139T>C
Revel Score:
ENST00000323084 (MANE Select) 0.574
ENST00000397918 0.574
ENST00000397916 0.574
ENST00000341581 0.574
gnomAD v2:
21:45929139 T / C
gnomAD v3:
21:44509256 T / C
gnomAD v4:
chr21-44509256-T-C
Joint Max Group AF 0.0000451 (NFE)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00004265 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44509256T>C , CM000683.2:g.44509256T>C GRCh38
NC_000021.8:g.45929139T>C , CM000683.1:g.45929139T>C GRCh37
NC_000021.7:g.44753567T>C NCBI36
NG_033806.1:g.207323A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323084.9:c.1697A>G (TSPEAR) MANE Select ENSP00000321987.4:p.Tyr566Cys
ENST00000642437.1:c.*1642A>G (TSPEAR) ENSP00000496535.1:n.*1642A>G
ENST00000323084.8:c.1697A>G (TSPEAR) ENSP00000321987.4:p.Tyr566Cys
ENST00000397916.1:c.1493A>G (TSPEAR) ENSP00000381012.1:p.Tyr498Cys
ENST00000613245.4:c.1256A>G (TSPEAR) ENSP00000478010.1:p.Tyr419Cys
ENST00000614657.4:c.1493A>G (TSPEAR) ENSP00000482422.1:p.Tyr498Cys
NM_001272037.1:c.1493A>G (TSPEAR) NP_001258966.1:p.Tyr498Cys
NM_144991.2:c.1697A>G (TSPEAR) NP_659428.2:p.Tyr566Cys
NR_103707.1:n.1219T>C (TSPEAR-AS1)
NM_144991.3:c.1697A>G (TSPEAR) MANE Select NP_659428.2:p.Tyr566Cys
NM_001272037.2:c.1493A>G (TSPEAR) NP_001258966.1:p.Tyr498Cys
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