Canonical Allele Identifier: CA373122973

Gene: TEK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27212763C>T , CM000671.2:g.27212763C>T	GRCh38
NC_000009.11:g.27212761C>T , CM000671.1:g.27212761C>T	GRCh37
NC_000009.10:g.27202761C>T	NCBI36
NG_011828.1:g.108615C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000459.5:c.2743C>T MANE Select	NP_000450.3:p.Arg915Cys
ENST00000380036.10:c.2743C>T MANE Select	ENSP00000369375.4:p.Arg915Cys
NM_000459.4:c.2743C>T	NP_000450.2:p.Arg915Cys
NM_001290077.1:c.2614C>T	NP_001277006.1:p.Arg872Cys
NM_001290078.1:c.2299C>T	NP_001277007.1:p.Arg767Cys
NM_001375475.1:c.2740C>T	NP_001362404.1:p.Arg914Cys
NM_001375476.1:c.2611C>T	NP_001362405.1:p.Arg871Cys
ENST00000380036.8:c.2743C>T	ENSP00000369375.4:p.Arg915Cys
ENST00000406359.8:c.2614C>T	ENSP00000383977.4:p.Arg872Cys
ENST00000519097.5:c.2299C>T	ENSP00000430686.1:p.Arg767Cys
ENST00000615002.4:c.*1244C>T	ENSP00000480251.1:n.*1244C>T
XM_005251561.1:c.2740C>T	XP_005251618.1:p.Arg914Cys
XM_005251561.2:c.2740C>T	XP_005251618.1:p.Arg914Cys
XM_005251563.1:c.2611C>T	XP_005251620.1:p.Arg871Cys
XM_005251563.2:c.2611C>T	XP_005251620.1:p.Arg871Cys