Canonical Allele Identifier: CA340900
Gene: TEK HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.27206762C>T
GRCh37 chr9:g.27206760C>T
Revel Score:
ENST00000519097 0.660
ENST00000380036 (MANE Select) 0.660
ENST00000406359 0.660
gnomAD v2:
9:27206760 C / T
gnomAD v3:
9:27206762 C / T
gnomAD v4:
chr9-27206762-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27206762C>T , CM000671.2:g.27206762C>T GRCh38
NC_000009.11:g.27206760C>T , CM000671.1:g.27206760C>T GRCh37
NC_000009.10:g.27196760C>T NCBI36
NG_011828.1:g.102614C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.2545C>T MANE Select ENSP00000369375.4:p.Arg849Trp
ENST00000380036.8:c.2545C>T ENSP00000369375.4:p.Arg849Trp
ENST00000406359.8:c.2416C>T ENSP00000383977.4:p.Arg806Trp
ENST00000519097.5:c.2101C>T ENSP00000430686.1:p.Arg701Trp
ENST00000615002.4:c.*1046C>T ENSP00000480251.1:n.*1046C>T
NM_000459.4:c.2545C>T NP_000450.2:p.Arg849Trp
NM_001290077.1:c.2416C>T NP_001277006.1:p.Arg806Trp
NM_001290078.1:c.2101C>T NP_001277007.1:p.Arg701Trp
XM_005251561.1:c.2542C>T XP_005251618.1:p.Arg848Trp
XM_005251563.1:c.2413C>T XP_005251620.1:p.Arg805Trp
XM_005251561.2:c.2542C>T XP_005251618.1:p.Arg848Trp
XM_005251563.2:c.2413C>T XP_005251620.1:p.Arg805Trp
NM_000459.5:c.2545C>T MANE Select NP_000450.3:p.Arg849Trp
NM_001375475.1:c.2542C>T NP_001362404.1:p.Arg848Trp
NM_001375476.1:c.2413C>T NP_001362405.1:p.Arg805Trp
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