Canonical Allele Identifier: CA7078586
Gene: TEP1 HGNC NCBI
COSMIC:
COSM432796 (not active)
MyVariant.info:
GRCh38 chr14:g.20373548C>T
GRCh37 chr14:g.20841707C>T
Revel Score:
ENST00000262715 (MANE Select) 0.052
ENST00000359243 0.052
ENST00000556935 0.052
ENST00000545983 0.052
gnomAD v2:
14:20841707 C / T
gnomAD v3:
14:20373548 C / T
gnomAD v4:
chr14-20373548-C-T
Joint Max Group AF 0.41446019 (AFR)
Genomes Max Group AF 0.40991458 (AFR)
Exomes Max Group AF 0.41651568 (AFR)
dbSNP:
1713449
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20373548C>T , CM000676.2:g.20373548C>T GRCh38
NC_000014.8:g.20841707C>T , CM000676.1:g.20841707C>T GRCh37
NC_000014.7:g.19911547C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262715.10:c.6640G>A MANE Select ENSP00000262715.5:p.Val2214Ile
ENST00000262715.9:c.6640G>A ENSP00000262715.5:p.Val2214Ile
ENST00000555008.5:c.4669G>A ENSP00000450541.1:p.Val1557Ile
ENST00000555727.5:c.*2060G>A ENSP00000451634.1:n.*2060G>A
ENST00000556488.5:c.1014G>A ENSP00000451409.1:n.1014G>A
ENST00000556935.5:c.6316G>A ENSP00000452574.1:p.Val2106Ile
ENST00000557314.5:c.2272G>A
NM_007110.4:c.6640G>A NP_009041.2:p.Val2214Ile
XM_005268027.3:c.6640G>A XP_005268084.1:p.Val2214Ile
XM_011537110.1:c.5071G>A XP_011535412.1:p.Val1691Ile
XR_245720.2:n.7771G>A
XR_429328.2:n.7933G>A
NM_001319035.1:c.6316G>A NP_001305964.1:p.Val2106Ile
XM_005268027.5:c.6640G>A XP_005268084.1:p.Val2214Ile
XM_011537110.2:c.5071G>A XP_011535412.1:p.Val1691Ile
XR_001750531.1:n.6828G>A
XR_245720.3:n.6666G>A
NM_007110.5:c.6640G>A MANE Select NP_009041.2:p.Val2214Ile
NM_001319035.2:c.6316G>A NP_001305964.1:p.Val2106Ile
Search 100 bp 5'
Search 100 bp 3'