Canonical Allele Identifier: CA5016119

Gene: TEK

Linked Data

• dbSNP Id: rs769912564
• ExAC: 9:27183481 T / C
• gnomAD v2: 9-27183481-T-C
• gnomAD v3: 9-27183483-T-C
• gnomAD v4: 9-27183483-T-C
• MyVariant Identifiers: chr9:g.27183481T>C (hg19) ; chr9:g.27183483T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27183483T>C , CM000671.2:g.27183483T>C	GRCh38
NC_000009.11:g.27183481T>C , CM000671.1:g.27183481T>C	GRCh37
NC_000009.10:g.27173481T>C	NCBI36
NG_011828.1:g.79335T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.1055T>C MANE Select	ENSP00000369375.4:p.Ile352Thr
ENST00000380036.8:c.1055T>C	ENSP00000369375.4:p.Ile352Thr
ENST00000406359.8:c.926T>C	ENSP00000383977.4:p.Ile309Thr
ENST00000519080.1:c.485T>C	ENSP00000428337.1:p.Ile162Thr
ENST00000519097.5:c.614T>C	ENSP00000430686.1:p.Ile205Thr
ENST00000615002.4:c.926T>C	ENSP00000480251.1:p.Ile309Thr
NM_000459.4:c.1055T>C	NP_000450.2:p.Ile352Thr
NM_001290077.1:c.926T>C	NP_001277006.1:p.Ile309Thr
NM_001290078.1:c.614T>C	NP_001277007.1:p.Ile205Thr
XM_005251561.1:c.1055T>C	XP_005251618.1:p.Ile352Thr
XM_005251563.1:c.926T>C	XP_005251620.1:p.Ile309Thr
XM_005251561.2:c.1055T>C	XP_005251618.1:p.Ile352Thr
XM_005251563.2:c.926T>C	XP_005251620.1:p.Ile309Thr
NM_000459.5:c.1055T>C MANE Select	NP_000450.3:p.Ile352Thr
NM_001375475.1:c.1055T>C	NP_001362404.1:p.Ile352Thr
NM_001375476.1:c.926T>C	NP_001362405.1:p.Ile309Thr