Canonical Allele Identifier: CA154769
Gene: PRICKLE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 130027
dbSNP Id: rs79087668

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.42469464C>T , CM000674.2:g.42469464C>T GRCh38
NC_000012.11:g.42863266C>T , CM000674.1:g.42863266C>T GRCh37
NC_000012.10:g.41149533C>T NCBI36
NG_012965.1:g.125307G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000345127.9:c.370G>A MANE Select ENSP00000345064.3:p.Ala124Thr
ENST00000445766.7:c.370G>A ENSP00000398947.2:p.Ala124Thr
ENST00000455697.6:c.370G>A ENSP00000401060.1:p.Ala124Thr
ENST00000548696.6:c.370G>A ENSP00000448359.1:p.Ala124Thr
ENST00000552108.6:c.370G>A ENSP00000447870.2:p.Ala124Thr
ENST00000552240.6:c.370G>A ENSP00000449819.1:p.Ala124Thr
ENST00000639566.1:c.370G>A ENSP00000492332.1:p.Ala124Thr
ENST00000639589.1:c.370G>A ENSP00000491051.1:p.Ala124Thr
ENST00000639958.1:c.370G>A ENSP00000492644.1:p.Ala124Thr
ENST00000640055.1:c.370G>A ENSP00000492763.1:p.Ala124Thr
ENST00000640132.1:c.370G>A ENSP00000491228.1:p.Ala124Thr
ENST00000640801.1:c.370G>A ENSP00000491473.1:p.Ala124Thr
ENST00000640840.1:n.197G>A
ENST00000345127.7:c.370G>A ENSP00000345064.3:p.Ala124Thr
ENST00000445766.6:c.370G>A ENSP00000398947.2:p.Ala124Thr
ENST00000455697.5:c.370G>A ENSP00000401060.1:p.Ala124Thr
ENST00000548696.5:c.370G>A ENSP00000448359.1:p.Ala124Thr
ENST00000552108.5:c.370G>A ENSP00000447870.1:p.Ala124Thr
ENST00000552240.5:c.370G>A ENSP00000449819.1:p.Ala124Thr
NM_001144881.1:c.370G>A NP_001138353.1:p.Ala124Thr
NM_001144882.1:c.370G>A NP_001138354.1:p.Ala124Thr
NM_001144883.1:c.370G>A NP_001138355.1:p.Ala124Thr
NM_153026.2:c.370G>A NP_694571.2:p.Ala124Thr
XM_011537946.1:c.370G>A XP_011536248.1:p.Ala124Thr
XM_011537947.1:c.370G>A XP_011536249.1:p.Ala124Thr
XM_011537947.2:c.370G>A XP_011536249.1:p.Ala124Thr
XM_017018838.1:c.370G>A XP_016874327.1:p.Ala124Thr
XM_017018839.1:c.370G>A XP_016874328.1:p.Ala124Thr
XM_017018840.1:c.370G>A XP_016874329.1:p.Ala124Thr
NM_153026.3:c.370G>A MANE Select NP_694571.2:p.Ala124Thr
NM_001144881.2:c.370G>A NP_001138353.1:p.Ala124Thr
NM_001144882.2:c.370G>A NP_001138354.1:p.Ala124Thr
NM_001144883.2:c.370G>A NP_001138355.1:p.Ala124Thr