Canonical Allele Identifier: CA5016345

Gene: TEK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27197590C>T , CM000671.2:g.27197590C>T	GRCh38
NC_000009.11:g.27197588C>T , CM000671.1:g.27197588C>T	GRCh37
NC_000009.10:g.27187588C>T	NCBI36
NG_011828.1:g.93442C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.1900C>T MANE Select	ENSP00000369375.4:p.Leu634Phe
ENST00000380036.8:c.1900C>T	ENSP00000369375.4:p.Leu634Phe
ENST00000406359.8:c.1771C>T	ENSP00000383977.4:p.Leu591Phe
ENST00000519080.1:c.1330C>T	ENSP00000428337.1:p.Leu444Phe
ENST00000519097.5:c.1459C>T	ENSP00000430686.1:p.Leu487Phe
ENST00000615002.4:c.*401C>T	ENSP00000480251.1:n.*401C>T
NM_000459.4:c.1900C>T	NP_000450.2:p.Leu634Phe
NM_001290077.1:c.1771C>T	NP_001277006.1:p.Leu591Phe
NM_001290078.1:c.1459C>T	NP_001277007.1:p.Leu487Phe
XM_005251561.1:c.1900C>T	XP_005251618.1:p.Leu634Phe
XM_005251563.1:c.1771C>T	XP_005251620.1:p.Leu591Phe
XM_005251561.2:c.1900C>T	XP_005251618.1:p.Leu634Phe
XM_005251563.2:c.1771C>T	XP_005251620.1:p.Leu591Phe
NM_000459.5:c.1900C>T MANE Select	NP_000450.3:p.Leu634Phe
NM_001375475.1:c.1900C>T	NP_001362404.1:p.Leu634Phe
NM_001375476.1:c.1771C>T	NP_001362405.1:p.Leu591Phe