Canonical Allele Identifier: CA5016114
Gene: TEK HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.27183465A>T
GRCh37 chr9:g.27183463A>T
Revel Score:
ENST00000519097 0.189
ENST00000380036 (MANE Select) 0.189
ENST00000346448 0.189
ENST00000406359 0.189
ENST00000519080 0.189
gnomAD v2:
9:27183463 A / T
gnomAD v3:
9:27183465 A / T
gnomAD v4:
chr9-27183465-A-T
Joint Max Group AF 0.0000255 (AFR)
Genomes Max Group AF 0.0000474 (AFR)
dbSNP:
682632
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27183465A>T , CM000671.2:g.27183465A>T GRCh38
NC_000009.11:g.27183463A>T , CM000671.1:g.27183463A>T GRCh37
NC_000009.10:g.27173463A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.1037A>T MANE Select ENSP00000369375.4:p.Gln346Leu
ENST00000380036.8:c.1037A>T ENSP00000369375.4:p.Gln346Leu
ENST00000406359.8:c.908A>T ENSP00000383977.4:p.Gln303Leu
ENST00000519080.1:c.467A>T ENSP00000428337.1:p.Gln156Leu
ENST00000519097.5:c.596A>T ENSP00000430686.1:p.Gln199Leu
ENST00000615002.4:c.908A>T ENSP00000480251.1:p.Gln303Leu
XM_005251561.1:c.1037A>T XP_005251618.1:p.Gln346Leu
XM_005251563.1:c.908A>T XP_005251620.1:p.Gln303Leu
XM_005251561.2:c.1037A>T XP_005251618.1:p.Gln346Leu
XM_005251563.2:c.908A>T XP_005251620.1:p.Gln303Leu
NM_000459.5:c.1037A>T MANE Select NP_000450.3:p.Gln346Leu
NM_001375475.1:c.1037A>T NP_001362404.1:p.Gln346Leu
NM_001375476.1:c.908A>T NP_001362405.1:p.Gln303Leu
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