Canonical Allele Identifier: CA321816127

Gene: TSPEAR

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44529799A>C , CM000683.2:g.44529799A>C	GRCh38
NC_000021.8:g.45949682A>C , CM000683.1:g.45949682A>C	GRCh37
NC_000021.7:g.44774110A>C	NCBI36
NG_033806.1:g.186780T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_144991.3:c.789T>G MANE Select	NP_659428.2:p.Tyr263Ter
ENST00000323084.9:c.789T>G MANE Select	ENSP00000321987.4:p.Tyr263Ter
NM_001272037.1:c.585T>G	NP_001258966.1:p.Tyr195Ter
NM_001272037.2:c.585T>G	NP_001258966.1:p.Tyr195Ter
NM_144991.2:c.789T>G	NP_659428.2:p.Tyr263Ter
ENST00000323084.8:c.789T>G	ENSP00000321987.4:p.Tyr263Ter
ENST00000397916.1:c.585T>G	ENSP00000381012.1:p.Tyr195Ter
ENST00000613245.4:c.382-1248T>G	ENSP00000478010.1:n.382-1248T>G
ENST00000614657.4:c.585T>G	ENSP00000482422.1:p.Tyr195Ter
ENST00000642437.1:c.*734T>G	ENSP00000496535.1:n.*734T>G