Canonical Allele Identifier: CA321843512

Gene: TSPEAR

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44567853G>A , CM000683.2:g.44567853G>A	GRCh38
NC_000021.8:g.45987737G>A , CM000683.1:g.45987737G>A	GRCh37
NC_000021.7:g.44812165G>A	NCBI36
NG_033806.1:g.148726C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_144991.3:c.235C>T MANE Select	NP_659428.2:p.Gln79Ter
ENST00000323084.9:c.235C>T MANE Select	ENSP00000321987.4:p.Gln79Ter
NM_001272037.1:c.31C>T	NP_001258966.1:p.Gln11Ter
NM_001272037.2:c.31C>T	NP_001258966.1:p.Gln11Ter
NM_144991.2:c.235C>T	NP_659428.2:p.Gln79Ter
ENST00000323084.8:c.235C>T	ENSP00000321987.4:p.Gln79Ter
ENST00000397916.1:c.31C>T	ENSP00000381012.1:p.Gln11Ter
ENST00000613245.4:c.235C>T	ENSP00000478010.1:p.Gln79Ter
ENST00000614657.4:c.31C>T	ENSP00000482422.1:p.Gln11Ter
ENST00000642437.1:c.*180C>T	ENSP00000496535.1:n.*180C>T