Canonical Allele Identifier: CA373122671

Gene: TEK

Linked Data

• ClinVar Variation Id: 1691346
• ClinVar RCV Id: RCV002254444 ; RCV003458850
• dbSNP Id: rs2131227936
• MyVariant Identifiers: chr9:g.27212707T>C (hg19) ; chr9:g.27212709T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27212709T>C , CM000671.2:g.27212709T>C	GRCh38
NC_000009.11:g.27212707T>C , CM000671.1:g.27212707T>C	GRCh37
NC_000009.10:g.27202707T>C	NCBI36
NG_011828.1:g.108561T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.2689T>C MANE Select	ENSP00000369375.4:p.Tyr897His
ENST00000380036.8:c.2689T>C	ENSP00000369375.4:p.Tyr897His
ENST00000406359.8:c.2560T>C	ENSP00000383977.4:p.Tyr854His
ENST00000519097.5:c.2245T>C	ENSP00000430686.1:p.Tyr749His
ENST00000615002.4:c.*1190T>C	ENSP00000480251.1:n.*1190T>C
NM_000459.4:c.2689T>C	NP_000450.2:p.Tyr897His
NM_001290077.1:c.2560T>C	NP_001277006.1:p.Tyr854His
NM_001290078.1:c.2245T>C	NP_001277007.1:p.Tyr749His
XM_005251561.1:c.2686T>C	XP_005251618.1:p.Tyr896His
XM_005251563.1:c.2557T>C	XP_005251620.1:p.Tyr853His
XM_005251561.2:c.2686T>C	XP_005251618.1:p.Tyr896His
XM_005251563.2:c.2557T>C	XP_005251620.1:p.Tyr853His
NM_000459.5:c.2689T>C MANE Select	NP_000450.3:p.Tyr897His
NM_001375475.1:c.2686T>C	NP_001362404.1:p.Tyr896His
NM_001375476.1:c.2557T>C	NP_001362405.1:p.Tyr853His