Canonical Allele Identifier: CA10056565

Gene: TSPEAR

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44521980A>T , CM000683.2:g.44521980A>T	GRCh38
NC_000021.8:g.45941863A>T , CM000683.1:g.45941863A>T	GRCh37
NC_000021.7:g.44766291A>T	NCBI36
NG_033806.1:g.194599T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_144991.3:c.1469T>A MANE Select	NP_659428.2:p.Leu490Gln
ENST00000323084.9:c.1469T>A MANE Select	ENSP00000321987.4:p.Leu490Gln
NM_001272037.1:c.1265T>A	NP_001258966.1:p.Leu422Gln
NM_001272037.2:c.1265T>A	NP_001258966.1:p.Leu422Gln
NM_144991.2:c.1469T>A	NP_659428.2:p.Leu490Gln
ENST00000323084.8:c.1469T>A	ENSP00000321987.4:p.Leu490Gln
ENST00000397916.1:c.1265T>A	ENSP00000381012.1:p.Leu422Gln
ENST00000613245.4:c.1028T>A	ENSP00000478010.1:p.Leu343Gln
ENST00000614657.4:c.1265T>A	ENSP00000482422.1:p.Leu422Gln
ENST00000642437.1:c.*1414T>A	ENSP00000496535.1:n.*1414T>A