Canonical Allele Identifier: CA5016024

Gene: TEK

Linked Data

• ClinVar Variation Id: 2878534
• ClinVar RCV Id: RCV003707718
• dbSNP Id: rs764047256
• ExAC: 9:27173265 G / T
• gnomAD v2: 9-27173265-G-T
• gnomAD v4: 9-27173267-G-T
• MyVariant Identifiers: chr9:g.27173265G>T (hg19) ; chr9:g.27173267G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27173267G>T , CM000671.2:g.27173267G>T	GRCh38
NC_000009.11:g.27173265G>T , CM000671.1:g.27173265G>T	GRCh37
NC_000009.10:g.27163265G>T	NCBI36
NG_011828.1:g.69119G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380036.10:c.806G>T MANE Select	ENSP00000369375.4:p.Ser269Ile
ENST00000380036.8:c.806G>T	ENSP00000369375.4:p.Ser269Ile
ENST00000406359.8:c.806G>T	ENSP00000383977.4:p.Ser269Ile
ENST00000519080.1:c.365G>T	ENSP00000428337.1:p.Ser122Ile
ENST00000519097.5:c.494G>T	ENSP00000430686.1:p.Ser165Ile
ENST00000615002.4:c.806G>T	ENSP00000480251.1:p.Ser269Ile
NM_000459.4:c.806G>T	NP_000450.2:p.Ser269Ile
NM_001290077.1:c.806G>T	NP_001277006.1:p.Ser269Ile
NM_001290078.1:c.494G>T	NP_001277007.1:p.Ser165Ile
XM_005251561.1:c.806G>T	XP_005251618.1:p.Ser269Ile
XM_005251563.1:c.806G>T	XP_005251620.1:p.Ser269Ile
XM_005251561.2:c.806G>T	XP_005251618.1:p.Ser269Ile
XM_005251563.2:c.806G>T	XP_005251620.1:p.Ser269Ile
NM_000459.5:c.806G>T MANE Select	NP_000450.3:p.Ser269Ile
NM_001375475.1:c.806G>T	NP_001362404.1:p.Ser269Ile
NM_001375476.1:c.806G>T	NP_001362405.1:p.Ser269Ile