Canonical Allele Identifier: CA10056416

Gene: TSPEAR TSPEAR-AS1

Linked Data

• ClinVar Variation Id: 505194
• ClinVar RCV Id: RCV000612197 ; RCV002506452 ; RCV002529321 ; RCV003352937
• dbSNP Id: rs782088056
• ExAC: 21:45929139 T / C
• gnomAD v2: 21-45929139-T-C
• gnomAD v3: 21-44509256-T-C
• gnomAD v4: 21-44509256-T-C
• MyVariant Identifiers: chr21:g.45929139T>C (hg19) ; chr21:g.44509256T>C (hg38)

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