Canonical Allele Identifier: CA10056257
Gene: TSPEAR HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.44499878C>T
GRCh37 chr21:g.45919761C>T
Revel Score:
ENST00000323084 (MANE Select) 0.276
ENST00000397918 0.276
gnomAD v2:
21:45919761 C / T
gnomAD v3:
21:44499878 C / T
gnomAD v4:
chr21-44499878-C-T
Joint Max Group AF 0.00456726 (NFE)
Genomes Max Group AF 0.00325908 (NFE)
Exomes Max Group AF 0.0046275 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44499878C>T , CM000683.2:g.44499878C>T GRCh38
NC_000021.8:g.45919761C>T , CM000683.1:g.45919761C>T GRCh37
NC_000021.7:g.44744189C>T NCBI36
NG_033806.1:g.216701G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323084.9:c.1915G>A MANE Select ENSP00000321987.4:p.Asp639Asn
ENST00000642437.1:c.*1860G>A ENSP00000496535.1:n.*1860G>A
ENST00000323084.8:c.1915G>A ENSP00000321987.4:p.Asp639Asn
ENST00000613245.4:c.1474G>A ENSP00000478010.1:p.Asp492Asn
ENST00000614657.4:c.1711G>A ENSP00000482422.1:p.Asp571Asn
NM_001272037.1:c.1711G>A NP_001258966.1:p.Asp571Asn
NM_144991.2:c.1915G>A NP_659428.2:p.Asp639Asn
NM_144991.3:c.1915G>A MANE Select NP_659428.2:p.Asp639Asn
NM_001272037.2:c.1711G>A NP_001258966.1:p.Asp571Asn
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