Canonical Allele Identifier: CA384444154
Gene: PRICKLE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.42469472A>G , CM000674.2:g.42469472A>G GRCh38
NC_000012.11:g.42863274A>G , CM000674.1:g.42863274A>G GRCh37
NC_000012.10:g.41149541A>G NCBI36
NG_012965.1:g.125299T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000345127.9:c.362T>C MANE Select ENSP00000345064.3:p.Val121Ala
ENST00000445766.7:c.362T>C ENSP00000398947.2:p.Val121Ala
ENST00000455697.6:c.362T>C ENSP00000401060.1:p.Val121Ala
ENST00000548696.6:c.362T>C ENSP00000448359.1:p.Val121Ala
ENST00000552108.6:c.362T>C ENSP00000447870.2:p.Val121Ala
ENST00000552240.6:c.362T>C ENSP00000449819.1:p.Val121Ala
ENST00000639566.1:c.362T>C ENSP00000492332.1:p.Val121Ala
ENST00000639589.1:c.362T>C ENSP00000491051.1:p.Val121Ala
ENST00000639958.1:c.362T>C ENSP00000492644.1:p.Val121Ala
ENST00000640055.1:c.362T>C ENSP00000492763.1:p.Val121Ala
ENST00000640132.1:c.362T>C ENSP00000491228.1:p.Val121Ala
ENST00000640801.1:c.362T>C ENSP00000491473.1:p.Val121Ala
ENST00000640840.1:n.189T>C
ENST00000345127.7:c.362T>C ENSP00000345064.3:p.Val121Ala
ENST00000445766.6:c.362T>C ENSP00000398947.2:p.Val121Ala
ENST00000455697.5:c.362T>C ENSP00000401060.1:p.Val121Ala
ENST00000548696.5:c.362T>C ENSP00000448359.1:p.Val121Ala
ENST00000552108.5:c.362T>C ENSP00000447870.1:p.Val121Ala
ENST00000552240.5:c.362T>C ENSP00000449819.1:p.Val121Ala
NM_001144881.1:c.362T>C NP_001138353.1:p.Val121Ala
NM_001144882.1:c.362T>C NP_001138354.1:p.Val121Ala
NM_001144883.1:c.362T>C NP_001138355.1:p.Val121Ala
NM_153026.2:c.362T>C NP_694571.2:p.Val121Ala
XM_011537946.1:c.362T>C XP_011536248.1:p.Val121Ala
XM_011537947.1:c.362T>C XP_011536249.1:p.Val121Ala
XM_011537947.2:c.362T>C XP_011536249.1:p.Val121Ala
XM_017018838.1:c.362T>C XP_016874327.1:p.Val121Ala
XM_017018839.1:c.362T>C XP_016874328.1:p.Val121Ala
XM_017018840.1:c.362T>C XP_016874329.1:p.Val121Ala
NM_153026.3:c.362T>C MANE Select NP_694571.2:p.Val121Ala
NM_001144881.2:c.362T>C NP_001138353.1:p.Val121Ala
NM_001144882.2:c.362T>C NP_001138354.1:p.Val121Ala
NM_001144883.2:c.362T>C NP_001138355.1:p.Val121Ala