Canonical Allele Identifier: CA373123052

Gene: TEK

Linked Data

• COSMIC: COSM6473114 ; COSM6473115
• MyVariant Identifiers: chr9:g.27212773G>T (hg19) ; chr9:g.27212775G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27212775G>T , CM000671.2:g.27212775G>T	GRCh38
NC_000009.11:g.27212773G>T , CM000671.1:g.27212773G>T	GRCh37
NC_000009.10:g.27202773G>T	NCBI36
NG_011828.1:g.108627G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.2755G>T MANE Select	ENSP00000369375.4:p.Val919Leu
ENST00000380036.8:c.2755G>T	ENSP00000369375.4:p.Val919Leu
ENST00000406359.8:c.2626G>T	ENSP00000383977.4:p.Val876Leu
ENST00000519097.5:c.2311G>T	ENSP00000430686.1:p.Val771Leu
ENST00000615002.4:c.*1256G>T	ENSP00000480251.1:n.*1256G>T
NM_000459.4:c.2755G>T	NP_000450.2:p.Val919Leu
NM_001290077.1:c.2626G>T	NP_001277006.1:p.Val876Leu
NM_001290078.1:c.2311G>T	NP_001277007.1:p.Val771Leu
XM_005251561.1:c.2752G>T	XP_005251618.1:p.Val918Leu
XM_005251563.1:c.2623G>T	XP_005251620.1:p.Val875Leu
XM_005251561.2:c.2752G>T	XP_005251618.1:p.Val918Leu
XM_005251563.2:c.2623G>T	XP_005251620.1:p.Val875Leu
NM_000459.5:c.2755G>T MANE Select	NP_000450.3:p.Val919Leu
NM_001375475.1:c.2752G>T	NP_001362404.1:p.Val918Leu
NM_001375476.1:c.2623G>T	NP_001362405.1:p.Val875Leu