Canonical Allele Identifier: CA373131993

Gene: TEK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27190662T>A , CM000671.2:g.27190662T>A	GRCh38
NC_000009.11:g.27190660T>A , CM000671.1:g.27190660T>A	GRCh37
NC_000009.10:g.27180660T>A	NCBI36
NG_011828.1:g.86514T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.1461T>A MANE Select	ENSP00000369375.4:p.Asn487Lys
ENST00000380036.8:c.1461T>A	ENSP00000369375.4:p.Asn487Lys
ENST00000406359.8:c.1332T>A	ENSP00000383977.4:p.Asn444Lys
ENST00000519080.1:c.891T>A	ENSP00000428337.1:p.Asn297Lys
ENST00000519097.5:c.1020T>A	ENSP00000430686.1:p.Asn340Lys
ENST00000615002.4:c.1332T>A	ENSP00000480251.1:p.Asn444Lys
NM_000459.4:c.1461T>A	NP_000450.2:p.Asn487Lys
NM_001290077.1:c.1332T>A	NP_001277006.1:p.Asn444Lys
NM_001290078.1:c.1020T>A	NP_001277007.1:p.Asn340Lys
XM_005251561.1:c.1461T>A	XP_005251618.1:p.Asn487Lys
XM_005251563.1:c.1332T>A	XP_005251620.1:p.Asn444Lys
XM_005251561.2:c.1461T>A	XP_005251618.1:p.Asn487Lys
XM_005251563.2:c.1332T>A	XP_005251620.1:p.Asn444Lys
NM_000459.5:c.1461T>A MANE Select	NP_000450.3:p.Asn487Lys
NM_001375475.1:c.1461T>A	NP_001362404.1:p.Asn487Lys
NM_001375476.1:c.1332T>A	NP_001362405.1:p.Asn444Lys