Canonical Allele Identifier: CA10056425

Gene: TSPEAR TSPEAR-AS1

Linked Data

• ClinVar Variation Id: 684487
• ClinVar RCV Id: RCV000844976 ; RCV001858448
• dbSNP Id: rs781818534
• ExAC: 21:45929161 A / G
• gnomAD v2: 21-45929161-A-G
• gnomAD v3: 21-44509278-A-G
• gnomAD v4: 21-44509278-A-G
• MyVariant Identifiers: chr21:g.45929161A>G (hg19) ; chr21:g.44509278A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44509278A>G , CM000683.2:g.44509278A>G	GRCh38
NC_000021.8:g.45929161A>G , CM000683.1:g.45929161A>G	GRCh37
NC_000021.7:g.44753589A>G	NCBI36
NG_033806.1:g.207301T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323084.9:c.1675T>C (TSPEAR) MANE Select	ENSP00000321987.4:p.Tyr559His
ENST00000642437.1:c.*1620T>C (TSPEAR)	ENSP00000496535.1:n.*1620T>C
ENST00000323084.8:c.1675T>C (TSPEAR)	ENSP00000321987.4:p.Tyr559His
ENST00000397916.1:c.1471T>C (TSPEAR)	ENSP00000381012.1:p.Tyr491His
ENST00000613245.4:c.1234T>C (TSPEAR)	ENSP00000478010.1:p.Tyr412His
ENST00000614657.4:c.1471T>C (TSPEAR)	ENSP00000482422.1:p.Tyr491His
NM_001272037.1:c.1471T>C (TSPEAR)	NP_001258966.1:p.Tyr491His
NM_144991.2:c.1675T>C (TSPEAR)	NP_659428.2:p.Tyr559His
NR_103707.1:n.1241A>G (TSPEAR-AS1)
NM_144991.3:c.1675T>C (TSPEAR) MANE Select	NP_659428.2:p.Tyr559His
NM_001272037.2:c.1471T>C (TSPEAR)	NP_001258966.1:p.Tyr491His