Canonical Allele Identifier: CA5016039
Gene: TEK HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.27173343G>C
GRCh37 chr9:g.27173341G>C
Revel Score:
ENST00000519097 0.102
ENST00000380036 (MANE Select) 0.102
ENST00000346448 0.102
ENST00000406359 0.102
ENST00000519080 0.102
gnomAD v2:
9:27173341 G / C
gnomAD v3:
9:27173343 G / C
gnomAD v4:
chr9-27173343-G-C
Joint Max Group AF 0.00027729 (NFE)
Genomes Max Group AF 0.000182 (NFE)
Exomes Max Group AF 0.00027805 (NFE)
ClinVar RCV:
RCV001168164
ClinVar Variation:
914145
dbSNP:
146169480
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173343G>C , CM000671.2:g.27173343G>C GRCh38
NC_000009.11:g.27173341G>C , CM000671.1:g.27173341G>C GRCh37
NC_000009.10:g.27163341G>C NCBI36
NG_011828.1:g.69195G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.882G>C MANE Select ENSP00000369375.4:p.Lys294Asn
ENST00000380036.8:c.882G>C ENSP00000369375.4:p.Lys294Asn
ENST00000406359.8:c.882G>C ENSP00000383977.4:p.Lys294Asn
ENST00000519080.1:c.441G>C ENSP00000428337.1:p.Lys147Asn
ENST00000519097.5:c.570G>C ENSP00000430686.1:p.Lys190Asn
ENST00000615002.4:c.882G>C ENSP00000480251.1:p.Lys294Asn
NM_000459.4:c.882G>C NP_000450.2:p.Lys294Asn
NM_001290077.1:c.882G>C NP_001277006.1:p.Lys294Asn
NM_001290078.1:c.570G>C NP_001277007.1:p.Lys190Asn
XM_005251561.1:c.882G>C XP_005251618.1:p.Lys294Asn
XM_005251563.1:c.882G>C XP_005251620.1:p.Lys294Asn
XM_005251561.2:c.882G>C XP_005251618.1:p.Lys294Asn
XM_005251563.2:c.882G>C XP_005251620.1:p.Lys294Asn
NM_000459.5:c.882G>C MANE Select NP_000450.3:p.Lys294Asn
NM_001375475.1:c.882G>C NP_001362404.1:p.Lys294Asn
NM_001375476.1:c.882G>C NP_001362405.1:p.Lys294Asn
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