Canonical Allele Identifier: CA10056275

Gene: TSPEAR

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44499916A>G , CM000683.2:g.44499916A>G	GRCh38
NC_000021.8:g.45919799A>G , CM000683.1:g.45919799A>G	GRCh37
NC_000021.7:g.44744227A>G	NCBI36
NG_033806.1:g.216663T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_144991.3:c.1877T>C MANE Select	NP_659428.2:p.Phe626Ser
ENST00000323084.9:c.1877T>C MANE Select	ENSP00000321987.4:p.Phe626Ser
NM_001272037.1:c.1673T>C	NP_001258966.1:p.Phe558Ser
NM_001272037.2:c.1673T>C	NP_001258966.1:p.Phe558Ser
NM_144991.2:c.1877T>C	NP_659428.2:p.Phe626Ser
ENST00000323084.8:c.1877T>C	ENSP00000321987.4:p.Phe626Ser
ENST00000613245.4:c.1436T>C	ENSP00000478010.1:p.Phe479Ser
ENST00000614657.4:c.1673T>C	ENSP00000482422.1:p.Phe558Ser
ENST00000642437.1:c.*1822T>C	ENSP00000496535.1:n.*1822T>C