Canonical Allele Identifier: CA5016175

Gene: TEK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27185539C>T , CM000671.2:g.27185539C>T	GRCh38
NC_000009.11:g.27185537C>T , CM000671.1:g.27185537C>T	GRCh37
NC_000009.10:g.27175537C>T	NCBI36
NG_011828.1:g.81391C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000459.5:c.1237C>T MANE Select	NP_000450.3:p.Arg413Trp
ENST00000380036.10:c.1237C>T MANE Select	ENSP00000369375.4:p.Arg413Trp
NM_000459.4:c.1237C>T	NP_000450.2:p.Arg413Trp
NM_001290077.1:c.1108C>T	NP_001277006.1:p.Arg370Trp
NM_001290078.1:c.796C>T	NP_001277007.1:p.Arg266Trp
NM_001375475.1:c.1237C>T	NP_001362404.1:p.Arg413Trp
NM_001375476.1:c.1108C>T	NP_001362405.1:p.Arg370Trp
ENST00000380036.8:c.1237C>T	ENSP00000369375.4:p.Arg413Trp
ENST00000406359.8:c.1108C>T	ENSP00000383977.4:p.Arg370Trp
ENST00000519080.1:c.667C>T	ENSP00000428337.1:p.Arg223Trp
ENST00000519097.5:c.796C>T	ENSP00000430686.1:p.Arg266Trp
ENST00000615002.4:c.1108C>T	ENSP00000480251.1:p.Arg370Trp
XM_005251561.1:c.1237C>T	XP_005251618.1:p.Arg413Trp
XM_005251561.2:c.1237C>T	XP_005251618.1:p.Arg413Trp
XM_005251563.1:c.1108C>T	XP_005251620.1:p.Arg370Trp
XM_005251563.2:c.1108C>T	XP_005251620.1:p.Arg370Trp