Canonical Allele Identifier: CA373125202

Gene: TEK

Linked Data

• gnomAD v4: 9-27173249-C-T
• MyVariant Identifiers: chr9:g.27173247C>T (hg19) ; chr9:g.27173249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27173249C>T , CM000671.2:g.27173249C>T	GRCh38
NC_000009.11:g.27173247C>T , CM000671.1:g.27173247C>T	GRCh37
NC_000009.10:g.27163247C>T	NCBI36
NG_011828.1:g.69101C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380036.10:c.788C>T MANE Select	ENSP00000369375.4:p.Thr263Ile
ENST00000380036.8:c.788C>T	ENSP00000369375.4:p.Thr263Ile
ENST00000406359.8:c.788C>T	ENSP00000383977.4:p.Thr263Ile
ENST00000519080.1:c.347C>T	ENSP00000428337.1:p.Thr116Ile
ENST00000519097.5:c.476C>T	ENSP00000430686.1:p.Thr159Ile
ENST00000615002.4:c.788C>T	ENSP00000480251.1:p.Thr263Ile
NM_000459.4:c.788C>T	NP_000450.2:p.Thr263Ile
NM_001290077.1:c.788C>T	NP_001277006.1:p.Thr263Ile
NM_001290078.1:c.476C>T	NP_001277007.1:p.Thr159Ile
XM_005251561.1:c.788C>T	XP_005251618.1:p.Thr263Ile
XM_005251563.1:c.788C>T	XP_005251620.1:p.Thr263Ile
XM_005251561.2:c.788C>T	XP_005251618.1:p.Thr263Ile
XM_005251563.2:c.788C>T	XP_005251620.1:p.Thr263Ile
NM_000459.5:c.788C>T MANE Select	NP_000450.3:p.Thr263Ile
NM_001375475.1:c.788C>T	NP_001362404.1:p.Thr263Ile
NM_001375476.1:c.788C>T	NP_001362405.1:p.Thr263Ile