Canonical Allele Identifier: CA10056278

Gene: TSPEAR

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44499923C>A , CM000683.2:g.44499923C>A	GRCh38
NC_000021.8:g.45919806C>A , CM000683.1:g.45919806C>A	GRCh37
NC_000021.7:g.44744234C>A	NCBI36
NG_033806.1:g.216656G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_144991.3:c.1870G>T MANE Select	NP_659428.2:p.Glu624Ter
ENST00000323084.9:c.1870G>T MANE Select	ENSP00000321987.4:p.Glu624Ter
NM_001272037.1:c.1666G>T	NP_001258966.1:p.Glu556Ter
NM_001272037.2:c.1666G>T	NP_001258966.1:p.Glu556Ter
NM_144991.2:c.1870G>T	NP_659428.2:p.Glu624Ter
ENST00000323084.8:c.1870G>T	ENSP00000321987.4:p.Glu624Ter
ENST00000613245.4:c.1429G>T	ENSP00000478010.1:p.Glu477Ter
ENST00000614657.4:c.1666G>T	ENSP00000482422.1:p.Glu556Ter
ENST00000642437.1:c.*1815G>T	ENSP00000496535.1:n.*1815G>T