Canonical Allele Identifier: CA5016220

Gene: TEK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27190547A>G , CM000671.2:g.27190547A>G	GRCh38
NC_000009.11:g.27190545A>G , CM000671.1:g.27190545A>G	GRCh37
NC_000009.10:g.27180545A>G	NCBI36
NG_011828.1:g.86399A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000459.5:c.1346A>G MANE Select	NP_000450.3:p.Asn449Ser
ENST00000380036.10:c.1346A>G MANE Select	ENSP00000369375.4:p.Asn449Ser
NM_000459.4:c.1346A>G	NP_000450.2:p.Asn449Ser
NM_001290077.1:c.1217A>G	NP_001277006.1:p.Asn406Ser
NM_001290078.1:c.905A>G	NP_001277007.1:p.Asn302Ser
NM_001375475.1:c.1346A>G	NP_001362404.1:p.Asn449Ser
NM_001375476.1:c.1217A>G	NP_001362405.1:p.Asn406Ser
ENST00000380036.8:c.1346A>G	ENSP00000369375.4:p.Asn449Ser
ENST00000406359.8:c.1217A>G	ENSP00000383977.4:p.Asn406Ser
ENST00000519080.1:c.776A>G	ENSP00000428337.1:p.Asn259Ser
ENST00000519097.5:c.905A>G	ENSP00000430686.1:p.Asn302Ser
ENST00000615002.4:c.1217A>G	ENSP00000480251.1:p.Asn406Ser
XM_005251561.1:c.1346A>G	XP_005251618.1:p.Asn449Ser
XM_005251561.2:c.1346A>G	XP_005251618.1:p.Asn449Ser
XM_005251563.1:c.1217A>G	XP_005251620.1:p.Asn406Ser
XM_005251563.2:c.1217A>G	XP_005251620.1:p.Asn406Ser