Canonical Allele Identifier: CA373125717

Gene: TEK

Linked Data

• ClinVar Variation Id: 1333386
• ClinVar RCV Id: RCV001808074
• dbSNP Id: rs2131150099
• MyVariant Identifiers: chr9:g.27173316G>T (hg19) ; chr9:g.27173318G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27173318G>T , CM000671.2:g.27173318G>T	GRCh38
NC_000009.11:g.27173316G>T , CM000671.1:g.27173316G>T	GRCh37
NC_000009.10:g.27163316G>T	NCBI36
NG_011828.1:g.69170G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.857G>T MANE Select	ENSP00000369375.4:p.Gly286Val
ENST00000380036.8:c.857G>T	ENSP00000369375.4:p.Gly286Val
ENST00000406359.8:c.857G>T	ENSP00000383977.4:p.Gly286Val
ENST00000519080.1:c.416G>T	ENSP00000428337.1:p.Gly139Val
ENST00000519097.5:c.545G>T	ENSP00000430686.1:p.Gly182Val
ENST00000615002.4:c.857G>T	ENSP00000480251.1:p.Gly286Val
NM_000459.4:c.857G>T	NP_000450.2:p.Gly286Val
NM_001290077.1:c.857G>T	NP_001277006.1:p.Gly286Val
NM_001290078.1:c.545G>T	NP_001277007.1:p.Gly182Val
XM_005251561.1:c.857G>T	XP_005251618.1:p.Gly286Val
XM_005251563.1:c.857G>T	XP_005251620.1:p.Gly286Val
XM_005251561.2:c.857G>T	XP_005251618.1:p.Gly286Val
XM_005251563.2:c.857G>T	XP_005251620.1:p.Gly286Val
NM_000459.5:c.857G>T MANE Select	NP_000450.3:p.Gly286Val
NM_001375475.1:c.857G>T	NP_001362404.1:p.Gly286Val
NM_001375476.1:c.857G>T	NP_001362405.1:p.Gly286Val