Canonical Allele Identifier: CA10056947

Gene: TSPEAR

Linked Data

• ClinVar Variation Id: 403572
• ClinVar RCV Id: RCV000455938 ; RCV000760528 ; RCV000708577 ; RCV001266951 ; RCV002289583 ; RCV003418147
• dbSNP Id: rs139455627
• ExAC: 21:45950970 G / A
• gnomAD v2: 21-45950970-G-A
• gnomAD v3: 21-44531087-G-A
• gnomAD v4: 21-44531087-G-A
• MyVariant Identifiers: chr21:g.45950970G>A (hg19) ; chr21:g.44531087G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44531087G>A , CM000683.2:g.44531087G>A	GRCh38
NC_000021.8:g.45950970G>A , CM000683.1:g.45950970G>A	GRCh37
NC_000021.7:g.44775398G>A	NCBI36
NG_033806.1:g.185492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323084.9:c.589C>T MANE Select	ENSP00000321987.4:p.Arg197Ter
ENST00000642437.1:c.*534C>T	ENSP00000496535.1:n.*534C>T
ENST00000323084.8:c.589C>T	ENSP00000321987.4:p.Arg197Ter
ENST00000397916.1:c.385C>T	ENSP00000381012.1:p.Arg129Ter
ENST00000613245.4:c.382-2536C>T	ENSP00000478010.1:n.382-2536C>T
ENST00000614657.4:c.385C>T	ENSP00000482422.1:p.Arg129Ter
NM_001272037.1:c.385C>T	NP_001258966.1:p.Arg129Ter
NM_144991.2:c.589C>T	NP_659428.2:p.Arg197Ter
NM_144991.3:c.589C>T MANE Select	NP_659428.2:p.Arg197Ter
NM_001272037.2:c.385C>T	NP_001258966.1:p.Arg129Ter