Canonical Allele Identifier: CA373123027

Gene: TEK

Linked Data

• MyVariant Identifiers: chr9:g.27212769C>A (hg19) ; chr9:g.27212771C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27212771C>A , CM000671.2:g.27212771C>A	GRCh38
NC_000009.11:g.27212769C>A , CM000671.1:g.27212769C>A	GRCh37
NC_000009.10:g.27202769C>A	NCBI36
NG_011828.1:g.108623C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.2751C>A MANE Select	ENSP00000369375.4:p.Ser917Arg
ENST00000380036.8:c.2751C>A	ENSP00000369375.4:p.Ser917Arg
ENST00000406359.8:c.2622C>A	ENSP00000383977.4:p.Ser874Arg
ENST00000519097.5:c.2307C>A	ENSP00000430686.1:p.Ser769Arg
ENST00000615002.4:c.*1252C>A	ENSP00000480251.1:n.*1252C>A
NM_000459.4:c.2751C>A	NP_000450.2:p.Ser917Arg
NM_001290077.1:c.2622C>A	NP_001277006.1:p.Ser874Arg
NM_001290078.1:c.2307C>A	NP_001277007.1:p.Ser769Arg
XM_005251561.1:c.2748C>A	XP_005251618.1:p.Ser916Arg
XM_005251563.1:c.2619C>A	XP_005251620.1:p.Ser873Arg
XM_005251561.2:c.2748C>A	XP_005251618.1:p.Ser916Arg
XM_005251563.2:c.2619C>A	XP_005251620.1:p.Ser873Arg
NM_000459.5:c.2751C>A MANE Select	NP_000450.3:p.Ser917Arg
NM_001375475.1:c.2748C>A	NP_001362404.1:p.Ser916Arg
NM_001375476.1:c.2619C>A	NP_001362405.1:p.Ser873Arg