Canonical Allele Identifier: CA373125229

Gene: TEK

Linked Data

• gnomAD v4: 9-27173253-T-A
• MyVariant Identifiers: chr9:g.27173251T>A (hg19) ; chr9:g.27173253T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27173253T>A , CM000671.2:g.27173253T>A	GRCh38
NC_000009.11:g.27173251T>A , CM000671.1:g.27173251T>A	GRCh37
NC_000009.10:g.27163251T>A	NCBI36
NG_011828.1:g.69105T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380036.10:c.792T>A MANE Select	ENSP00000369375.4:p.Cys264Ter
ENST00000380036.8:c.792T>A	ENSP00000369375.4:p.Cys264Ter
ENST00000406359.8:c.792T>A	ENSP00000383977.4:p.Cys264Ter
ENST00000519080.1:c.351T>A	ENSP00000428337.1:p.Cys117Ter
ENST00000519097.5:c.480T>A	ENSP00000430686.1:p.Cys160Ter
ENST00000615002.4:c.792T>A	ENSP00000480251.1:p.Cys264Ter
NM_000459.4:c.792T>A	NP_000450.2:p.Cys264Ter
NM_001290077.1:c.792T>A	NP_001277006.1:p.Cys264Ter
NM_001290078.1:c.480T>A	NP_001277007.1:p.Cys160Ter
XM_005251561.1:c.792T>A	XP_005251618.1:p.Cys264Ter
XM_005251563.1:c.792T>A	XP_005251620.1:p.Cys264Ter
XM_005251561.2:c.792T>A	XP_005251618.1:p.Cys264Ter
XM_005251563.2:c.792T>A	XP_005251620.1:p.Cys264Ter
NM_000459.5:c.792T>A MANE Select	NP_000450.3:p.Cys264Ter
NM_001375475.1:c.792T>A	NP_001362404.1:p.Cys264Ter
NM_001375476.1:c.792T>A	NP_001362405.1:p.Cys264Ter