Canonical Allele Identifier: CA10056396
Community Standard Title: NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile)
Gene: TSPEAR HGNC NCBI
TSPEAR-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44509199C>A , CM000683.2:g.44509199C>A GRCh38
NC_000021.8:g.45929082C>A , CM000683.1:g.45929082C>A GRCh37
NC_000021.7:g.44753510C>A NCBI36
NG_033806.1:g.207380G>T

Transcript Alleles

HGVS Amino-acid Change
NM_144991.3:c.1754G>T (TSPEAR) MANE Select NP_659428.2:p.Ser585Ile
ENST00000323084.9:c.1754G>T (TSPEAR) MANE Select ENSP00000321987.4:p.Ser585Ile
NM_001272037.1:c.1550G>T (TSPEAR) NP_001258966.1:p.Ser517Ile
NM_001272037.2:c.1550G>T (TSPEAR) NP_001258966.1:p.Ser517Ile
NM_144991.2:c.1754G>T (TSPEAR) NP_659428.2:p.Ser585Ile
NR_103707.1:n.1215-53C>A (TSPEAR-AS1)
ENST00000323084.8:c.1754G>T (TSPEAR) ENSP00000321987.4:p.Ser585Ile
ENST00000397916.1:c.1550G>T (TSPEAR) ENSP00000381012.1:p.Ser517Ile
ENST00000613245.4:c.1313G>T (TSPEAR) ENSP00000478010.1:p.Ser438Ile
ENST00000614657.4:c.1550G>T (TSPEAR) ENSP00000482422.1:p.Ser517Ile
ENST00000642437.1:c.*1699G>T (TSPEAR) ENSP00000496535.1:n.*1699G>T