Canonical Allele Identifier: CA191331640
Gene: TEK HGNC NCBI

Linked Data

dbSNP Id: rs898517468

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27183494C>A , CM000671.2:g.27183494C>A GRCh38
NC_000009.11:g.27183492C>A , CM000671.1:g.27183492C>A GRCh37
NC_000009.10:g.27173492C>A NCBI36
NG_011828.1:g.79346C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.1066C>A MANE Select ENSP00000369375.4:p.Pro356Thr
ENST00000380036.8:c.1066C>A ENSP00000369375.4:p.Pro356Thr
ENST00000406359.8:c.937C>A ENSP00000383977.4:p.Pro313Thr
ENST00000519080.1:c.496C>A ENSP00000428337.1:p.Pro166Thr
ENST00000519097.5:c.625C>A ENSP00000430686.1:p.Pro209Thr
ENST00000615002.4:c.937C>A ENSP00000480251.1:p.Pro313Thr
NM_000459.4:c.1066C>A NP_000450.2:p.Pro356Thr
NM_001290077.1:c.937C>A NP_001277006.1:p.Pro313Thr
NM_001290078.1:c.625C>A NP_001277007.1:p.Pro209Thr
XM_005251561.1:c.1066C>A XP_005251618.1:p.Pro356Thr
XM_005251563.1:c.937C>A XP_005251620.1:p.Pro313Thr
XM_005251561.2:c.1066C>A XP_005251618.1:p.Pro356Thr
XM_005251563.2:c.937C>A XP_005251620.1:p.Pro313Thr
NM_000459.5:c.1066C>A MANE Select NP_000450.3:p.Pro356Thr
NM_001375475.1:c.1066C>A NP_001362404.1:p.Pro356Thr
NM_001375476.1:c.937C>A NP_001362405.1:p.Pro313Thr