Canonical Allele Identifier: CA16041372
Gene: PCDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 370422
ClinVar RCV Id: RCV000410583
dbSNP Id: rs1057516474
MyVariant Identifiers: chr10:g.55892769T>G (hg19) chr10:g.54133009T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.54133009T>G , CM000672.2:g.54133009T>G GRCh38
NC_000010.10:g.55892769T>G , CM000672.1:g.55892769T>G GRCh37
NC_000010.9:g.55562775T>G NCBI36
NG_009191.2:g.673283A>C
NG_009191.3:g.1501174A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000613657.6:c.1821-2A>C ENSP00000482794.1:n.1821-2A>C
ENST00000320301.11:c.1785-2A>C MANE Plus Clinical ENSP00000322604.6:n.1785-2A>C
ENST00000395445.6:c.1806-2A>C ENSP00000378832.2:n.1806-2A>C
ENST00000613657.5:c.1821-2A>C ENSP00000482794.1:n.1821-2A>C
ENST00000642496.1:c.644-2A>C
ENST00000644397.2:c.1785-2A>C MANE Select ENSP00000495195.1:n.1785-2A>C
ENST00000320301.10:c.1785-2A>C ENSP00000322604.6:n.1785-2A>C
ENST00000361849.7:c.1785-2A>C ENSP00000354950.3:n.1785-2A>C
ENST00000373955.5:c.1785-2A>C ENSP00000363066.1:n.1785-2A>C
ENST00000373956.7:c.1785-2A>C ENSP00000363067.4:n.1785-2A>C
ENST00000373957.7:c.1800-2A>C ENSP00000363068.4:n.1800-2A>C
ENST00000373965.6:c.1785-2A>C ENSP00000363076.3:n.1785-2A>C
ENST00000395430.5:c.1785-2A>C ENSP00000378818.1:n.1785-2A>C
ENST00000395432.6:c.1674-2A>C ENSP00000378820.2:n.1674-2A>C
ENST00000395433.5:c.1719-2A>C ENSP00000378821.1:n.1719-2A>C
ENST00000395438.5:c.1785-2A>C ENSP00000378826.2:n.1785-2A>C
ENST00000395440.5:c.1305+62674A>C ENSP00000378827.1:n.1305+62674A>C
ENST00000395442.5:c.1098+80927A>C ENSP00000378829.1:n.1098+80927A>C
ENST00000395445.5:c.1806-2A>C ENSP00000378832.2:n.1806-2A>C
ENST00000395446.5:c.1785-2A>C ENSP00000378833.1:n.1785-2A>C
ENST00000409834.5:c.618-2A>C ENSP00000386693.1:n.618-2A>C
ENST00000414367.5:c.876+184262A>C ENSP00000412531.1:n.876+184262A>C
ENST00000414778.5:c.1785-2A>C ENSP00000410304.2:n.1785-2A>C
ENST00000437009.5:c.1784+20091A>C ENSP00000412628.2:n.1784+20091A>C
ENST00000448885.5:c.1785-2A>C ENSP00000412320.1:n.1785-2A>C
ENST00000495484.5:c.-24-275746A>C ENSP00000480780.1:n.-24-275746A>C
ENST00000612394.4:c.1821-2A>C ENSP00000482921.1:n.1821-2A>C
ENST00000613657.4:c.1821-2A>C ENSP00000482794.1:n.1821-2A>C
ENST00000614895.4:c.1800-2A>C ENSP00000478512.1:n.1800-2A>C
ENST00000616114.4:c.1785-2A>C ENSP00000483745.1:n.1785-2A>C
ENST00000617051.4:c.1800-2A>C ENSP00000484703.1:n.1800-2A>C
ENST00000617271.4:c.1785-2A>C ENSP00000478076.1:n.1785-2A>C
ENST00000621708.4:c.1800-2A>C ENSP00000484454.1:n.1800-2A>C
ENST00000622048.4:c.1784+20091A>C ENSP00000482329.1:n.1784+20091A>C
NM_001142763.1:c.1800-2A>C NP_001136235.1:n.1800-2A>C
NM_001142764.1:c.1785-2A>C NP_001136236.1:n.1785-2A>C
NM_001142765.1:c.1784+20091A>C NP_001136237.1:n.1784+20091A>C
NM_001142766.1:c.1785-2A>C NP_001136238.1:n.1785-2A>C
NM_001142767.1:c.1674-2A>C NP_001136239.1:n.1674-2A>C
NM_001142768.1:c.1719-2A>C NP_001136240.1:n.1719-2A>C
NM_001142769.1:c.1821-2A>C NP_001136241.1:n.1821-2A>C
NM_001142770.1:c.1785-2A>C NP_001136242.1:n.1785-2A>C
NM_001142771.1:c.1800-2A>C NP_001136243.1:n.1800-2A>C
NM_001142772.1:c.1785-2A>C NP_001136244.1:n.1785-2A>C
NM_001142773.1:c.1719-2A>C NP_001136245.1:n.1719-2A>C
NM_033056.3:c.1785-2A>C NP_149045.3:n.1785-2A>C
NM_001142769.2:c.1821-2A>C NP_001136241.1:n.1821-2A>C
NM_001142770.2:c.1785-2A>C NP_001136242.1:n.1785-2A>C
NM_001354404.1:c.1719-2A>C NP_001341333.1:n.1719-2A>C
NM_001354411.1:c.1806-2A>C NP_001341340.1:n.1806-2A>C
NM_001354420.1:c.1785-2A>C NP_001341349.1:n.1785-2A>C
NM_001354429.1:c.1785-2A>C NP_001341358.1:n.1785-2A>C
NM_001354430.1:c.1785-2A>C NP_001341359.1:n.1785-2A>C
XM_017016573.2:c.1800-2A>C XP_016872062.1:n.1800-2A>C
XR_001747192.2:n.2798-2A>C
XR_001747193.2:n.2798-2A>C
NM_001142763.2:c.1800-2A>C NP_001136235.1:n.1800-2A>C
NM_001142764.2:c.1785-2A>C NP_001136236.1:n.1785-2A>C
NM_001142765.2:c.1784+20091A>C NP_001136237.1:n.1784+20091A>C
NM_001142766.2:c.1785-2A>C NP_001136238.1:n.1785-2A>C
NM_001142768.2:c.1719-2A>C NP_001136240.1:n.1719-2A>C
NM_001142769.3:c.1821-2A>C NP_001136241.1:n.1821-2A>C
NM_001142770.3:c.1785-2A>C NP_001136242.1:n.1785-2A>C
NM_001142771.2:c.1800-2A>C NP_001136243.1:n.1800-2A>C
NM_001142772.2:c.1785-2A>C NP_001136244.1:n.1785-2A>C
NM_001142773.2:c.1719-2A>C NP_001136245.1:n.1719-2A>C
NM_001354411.2:c.1806-2A>C NP_001341340.1:n.1806-2A>C
NM_001354420.2:c.1785-2A>C NP_001341349.1:n.1785-2A>C
NM_001354429.2:c.1785-2A>C NP_001341358.1:n.1785-2A>C
NM_001354430.2:c.1785-2A>C NP_001341359.1:n.1785-2A>C
NM_033056.4:c.1785-2A>C MANE Plus Clinical NP_149045.3:n.1785-2A>C
NM_001142767.2:c.1674-2A>C NP_001136239.1:n.1674-2A>C
NM_001354404.2:c.1719-2A>C NP_001341333.1:n.1719-2A>C
NM_001384140.1:c.1785-2A>C MANE Select NP_001371069.1:n.1785-2A>C
Search 100 bp 5'
Search 100 bp 3'