Canonical Allele Identifier: CA3254910
Gene: CCDC152 HGNC NCBI
SELENOP HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.42801166C>T , CM000667.2:g.42801166C>T GRCh38
NC_000005.9:g.42801268C>T , CM000667.1:g.42801268C>T GRCh37
NC_000005.8:g.42837025C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361970.10:c.*1385C>T (CCDC152) MANE Select ENSP00000354888.5:n.*1385C>T
ENST00000514985.6:c.700G>A (SELENOP) MANE Select ENSP00000420939.1:p.Ala234Thr
ENST00000361970.9:c.*1385C>T (CCDC152) ENSP00000354888.5:n.*1385C>T
ENST00000506577.5:c.700G>A (SELENOP) ENSP00000425915.1:p.Ala234Thr
ENST00000507920.5:c.369G>A (SELENOP) ENSP00000473340.1:p.Met123Ile
ENST00000509276.5:n.500G>A (SELENOP)
ENST00000511224.5:c.700G>A (SELENOP) ENSP00000427671.1:p.Ala234Thr
ENST00000512980.5:n.2892G>A (SELENOP)
ENST00000513303.5:n.653G>A (SELENOP)
ENST00000514218.5:c.700G>A (SELENOP) ENSP00000421626.1:p.Ala234Thr
ENST00000514985.5:c.700G>A (SELENOP) ENSP00000420939.1:p.Ala234Thr
NM_001085486.1:c.700G>A (SELENOP) NP_001078955.1:p.Ala234Thr
NM_001093726.1:c.790G>A (SELENOP) NP_001087195.1:p.Ala264Thr
NM_001134848.1:c.*1385C>T (CCDC152) NP_001128320.1:n.*1385C>T
NM_005410.2:c.700G>A (SELENOP) NP_005401.3:p.Ala234Thr
NM_001085486.2:c.700G>A (SELENOP) NP_001078955.1:p.Ala234Thr
NM_001093726.2:c.790G>A (SELENOP) NP_001087195.1:p.Ala264Thr
NM_005410.3:c.700G>A (SELENOP) NP_005401.3:p.Ala234Thr
NM_001134848.2:c.*1385C>T (CCDC152) MANE Select NP_001128320.1:n.*1385C>T
NM_005410.4:c.700G>A (SELENOP) MANE Select NP_005401.3:p.Ala234Thr
NM_001085486.3:c.700G>A (SELENOP) NP_001078955.1:p.Ala234Thr
NM_001093726.3:c.790G>A (SELENOP) NP_001087195.1:p.Ala264Thr