Canonical Allele Identifier: CA5016640

Gene: TEK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27213582T>C , CM000671.2:g.27213582T>C	GRCh38
NC_000009.11:g.27213580T>C , CM000671.1:g.27213580T>C	GRCh37
NC_000009.10:g.27203580T>C	NCBI36
NG_011828.1:g.109434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.2976T>C MANE Select	ENSP00000369375.4:p.Tyr992=
ENST00000380036.8:c.2976T>C	ENSP00000369375.4:p.Tyr992=
ENST00000406359.8:c.2847T>C	ENSP00000383977.4:p.Tyr949=
ENST00000519097.5:c.2532T>C	ENSP00000430686.1:p.Tyr844=
ENST00000615002.4:c.*1477T>C	ENSP00000480251.1:n.*1477T>C
NM_000459.4:c.2976T>C	NP_000450.2:p.Tyr992=
NM_001290077.1:c.2847T>C	NP_001277006.1:p.Tyr949=
NM_001290078.1:c.2532T>C	NP_001277007.1:p.Tyr844=
XM_005251561.1:c.2973T>C	XP_005251618.1:p.Tyr991=
XM_005251563.1:c.2844T>C	XP_005251620.1:p.Tyr948=
XM_005251561.2:c.2973T>C	XP_005251618.1:p.Tyr991=
XM_005251563.2:c.2844T>C	XP_005251620.1:p.Tyr948=
NM_000459.5:c.2976T>C MANE Select	NP_000450.3:p.Tyr992=
NM_001375475.1:c.2973T>C	NP_001362404.1:p.Tyr991=
NM_001375476.1:c.2844T>C	NP_001362405.1:p.Tyr948=