Canonical Allele Identifier: CA5016712

Gene: TEK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27218804G>A , CM000671.2:g.27218804G>A	GRCh38
NC_000009.11:g.27218802G>A , CM000671.1:g.27218802G>A	GRCh37
NC_000009.10:g.27208802G>A	NCBI36
NG_011828.1:g.114656G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.3090G>A MANE Select	ENSP00000369375.4:p.Glu1030=
ENST00000380036.8:c.3090G>A	ENSP00000369375.4:p.Glu1030=
ENST00000406359.8:c.2961G>A	ENSP00000383977.4:p.Glu987=
ENST00000519097.5:c.2646G>A	ENSP00000430686.1:p.Glu882=
ENST00000615002.4:c.*1591G>A	ENSP00000480251.1:n.*1591G>A
NM_000459.4:c.3090G>A	NP_000450.2:p.Glu1030=
NM_001290077.1:c.2961G>A	NP_001277006.1:p.Glu987=
NM_001290078.1:c.2646G>A	NP_001277007.1:p.Glu882=
XM_005251561.1:c.3087G>A	XP_005251618.1:p.Glu1029=
XM_005251563.1:c.2958G>A	XP_005251620.1:p.Glu986=
XM_005251561.2:c.3087G>A	XP_005251618.1:p.Glu1029=
XM_005251563.2:c.2958G>A	XP_005251620.1:p.Glu986=
NM_000459.5:c.3090G>A MANE Select	NP_000450.3:p.Glu1030=
NM_001375475.1:c.3087G>A	NP_001362404.1:p.Glu1029=
NM_001375476.1:c.2958G>A	NP_001362405.1:p.Glu986=