Canonical Allele Identifier: CA10056546

Gene: TSPEAR

Linked Data

• ClinVar Variation Id: 504870
• ClinVar RCV Id: RCV000612980 ; RCV001265889 ; RCV002529302 ; RCV002470929 ; RCV002470930
• dbSNP Id: rs201663789
• ExAC: 21:45941804 G / A
• gnomAD v2: 21-45941804-G-A
• gnomAD v3: 21-44521921-G-A
• gnomAD v4: 21-44521921-G-A
• COSMIC: COSM1198614
• MyVariant Identifiers: chr21:g.45941804G>A (hg19) ; chr21:g.44521921G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44521921G>A , CM000683.2:g.44521921G>A	GRCh38
NC_000021.8:g.45941804G>A , CM000683.1:g.45941804G>A	GRCh37
NC_000021.7:g.44766232G>A	NCBI36
NG_033806.1:g.194658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323084.9:c.1528C>T MANE Select	ENSP00000321987.4:p.Arg510Ter
ENST00000642437.1:c.*1473C>T	ENSP00000496535.1:n.*1473C>T
ENST00000323084.8:c.1528C>T	ENSP00000321987.4:p.Arg510Ter
ENST00000397916.1:c.1324C>T	ENSP00000381012.1:p.Arg442Ter
ENST00000613245.4:c.1087C>T	ENSP00000478010.1:p.Arg363Ter
ENST00000614657.4:c.1324C>T	ENSP00000482422.1:p.Arg442Ter
NM_001272037.1:c.1324C>T	NP_001258966.1:p.Arg442Ter
NM_144991.2:c.1528C>T	NP_659428.2:p.Arg510Ter
NM_144991.3:c.1528C>T MANE Select	NP_659428.2:p.Arg510Ter
NM_001272037.2:c.1324C>T	NP_001258966.1:p.Arg442Ter