Canonical Allele Identifier: CA373122982

Gene: TEK

Linked Data

• MyVariant Identifiers: chr9:g.27212762G>T (hg19) ; chr9:g.27212764G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27212764G>T , CM000671.2:g.27212764G>T	GRCh38
NC_000009.11:g.27212762G>T , CM000671.1:g.27212762G>T	GRCh37
NC_000009.10:g.27202762G>T	NCBI36
NG_011828.1:g.108616G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.2744G>T MANE Select	ENSP00000369375.4:p.Arg915Leu
ENST00000380036.8:c.2744G>T	ENSP00000369375.4:p.Arg915Leu
ENST00000406359.8:c.2615G>T	ENSP00000383977.4:p.Arg872Leu
ENST00000519097.5:c.2300G>T	ENSP00000430686.1:p.Arg767Leu
ENST00000615002.4:c.*1245G>T	ENSP00000480251.1:n.*1245G>T
NM_000459.4:c.2744G>T	NP_000450.2:p.Arg915Leu
NM_001290077.1:c.2615G>T	NP_001277006.1:p.Arg872Leu
NM_001290078.1:c.2300G>T	NP_001277007.1:p.Arg767Leu
XM_005251561.1:c.2741G>T	XP_005251618.1:p.Arg914Leu
XM_005251563.1:c.2612G>T	XP_005251620.1:p.Arg871Leu
XM_005251561.2:c.2741G>T	XP_005251618.1:p.Arg914Leu
XM_005251563.2:c.2612G>T	XP_005251620.1:p.Arg871Leu
NM_000459.5:c.2744G>T MANE Select	NP_000450.3:p.Arg915Leu
NM_001375475.1:c.2741G>T	NP_001362404.1:p.Arg914Leu
NM_001375476.1:c.2612G>T	NP_001362405.1:p.Arg871Leu