Canonical Allele Identifier: CA373131405

Gene: TEK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27229200G>T , CM000671.2:g.27229200G>T	GRCh38
NC_000009.11:g.27229198G>T , CM000671.1:g.27229198G>T	GRCh37
NC_000009.10:g.27219198G>T	NCBI36
NG_011828.1:g.125052G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000459.5:c.3343G>T MANE Select	NP_000450.3:p.Gly1115Ter
ENST00000380036.10:c.3343G>T MANE Select	ENSP00000369375.4:p.Gly1115Ter
NM_000459.4:c.3343G>T	NP_000450.2:p.Gly1115Ter
NM_001290077.1:c.3214G>T	NP_001277006.1:p.Gly1072Ter
NM_001290078.1:c.2899G>T	NP_001277007.1:p.Gly967Ter
NM_001375475.1:c.3340G>T	NP_001362404.1:p.Gly1114Ter
NM_001375476.1:c.3211G>T	NP_001362405.1:p.Gly1071Ter
ENST00000380036.8:c.3343G>T	ENSP00000369375.4:p.Gly1115Ter
ENST00000406359.8:c.3214G>T	ENSP00000383977.4:p.Gly1072Ter
ENST00000519097.5:c.2899G>T	ENSP00000430686.1:p.Gly967Ter
ENST00000615002.4:c.*1844G>T	ENSP00000480251.1:n.*1844G>T
XM_005251561.1:c.3340G>T	XP_005251618.1:p.Gly1114Ter
XM_005251561.2:c.3340G>T	XP_005251618.1:p.Gly1114Ter
XM_005251563.1:c.3211G>T	XP_005251620.1:p.Gly1071Ter
XM_005251563.2:c.3211G>T	XP_005251620.1:p.Gly1071Ter