Canonical Allele Identifier: CA5504823
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs772526635

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53809381C>T , CM000672.2:g.53809381C>T GRCh38
NC_000010.10:g.55569141C>T , CM000672.1:g.55569141C>T GRCh37
NC_000010.9:g.55239147C>T NCBI36
NG_009191.2:g.996911G>A
NG_009191.3:g.1824802G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4684G>A ENSP00000482794.1:p.Ala1562Thr
ENST00000395445.6:c.4663G>A ENSP00000378832.2:p.Ala1555Thr
ENST00000613657.5:c.4684G>A ENSP00000482794.1:p.Ala1562Thr
ENST00000642496.1:c.3530+1175G>A
ENST00000644397.2:c.4671+1175G>A MANE Select ENSP00000495195.1:n.4671+1175G>A
ENST00000373965.6:c.4482+1175G>A ENSP00000363076.3:n.4482+1175G>A
ENST00000395438.5:c.*99G>A ENSP00000378826.2:n.*99G>A
ENST00000395440.5:c.1471G>A ENSP00000378827.1:p.Ala491Thr
ENST00000395442.5:c.1264G>A ENSP00000378829.1:p.Ala422Thr
ENST00000395445.5:c.4663G>A ENSP00000378832.2:p.Ala1555Thr
ENST00000395446.5:c.2257G>A ENSP00000378833.1:p.Ala753Thr
ENST00000409834.5:c.*99G>A ENSP00000386693.1:n.*99G>A
ENST00000414367.5:c.*722G>A ENSP00000412531.1:n.*722G>A
ENST00000414778.5:c.4479+1175G>A ENSP00000410304.2:n.4479+1175G>A
ENST00000476074.5:n.609+1175G>A
ENST00000495484.5:c.699+1175G>A ENSP00000480780.1:n.699+1175G>A
ENST00000612394.4:c.4681G>A ENSP00000482921.1:p.Ala1561Thr
ENST00000613657.4:c.4684G>A ENSP00000482794.1:p.Ala1562Thr
ENST00000614895.4:c.4494+1175G>A ENSP00000478512.1:n.4494+1175G>A
ENST00000615043.1:c.284G>A
ENST00000616114.4:c.4476+1175G>A ENSP00000483745.1:n.4476+1175G>A
ENST00000617271.4:c.*99G>A ENSP00000478076.1:n.*99G>A
ENST00000618301.4:c.831+1175G>A ENSP00000482780.1:n.831+1175G>A
ENST00000621708.4:c.4497+1175G>A ENSP00000484454.1:n.4497+1175G>A
NM_001142769.1:c.4684G>A NP_001136241.1:p.Ala1562Thr
NM_001142770.1:c.*99G>A NP_001136242.1:n.*99G>A
NM_001142771.1:c.4497+1175G>A NP_001136243.1:n.4497+1175G>A
NM_001142772.1:c.4482+1175G>A NP_001136244.1:n.4482+1175G>A
NM_001142769.2:c.4684G>A NP_001136241.1:p.Ala1562Thr
NM_001142770.2:c.*99G>A NP_001136242.1:n.*99G>A
NM_001354411.1:c.4663G>A NP_001341340.1:p.Ala1555Thr
NM_001354420.1:c.4476+1175G>A NP_001341349.1:n.4476+1175G>A
NM_001354429.1:c.4605+1175G>A NP_001341358.1:n.4605+1175G>A
XM_017016573.2:c.4663G>A XP_016872062.1:p.Ala1555Thr
XR_001747192.2:n.10963+1175G>A
XR_001747193.2:n.10954+1175G>A
NM_001142769.3:c.4684G>A NP_001136241.1:p.Ala1562Thr
NM_001142770.3:c.*99G>A NP_001136242.1:n.*99G>A
NM_001142771.2:c.4497+1175G>A NP_001136243.1:n.4497+1175G>A
NM_001142772.2:c.4482+1175G>A NP_001136244.1:n.4482+1175G>A
NM_001354411.2:c.4663G>A NP_001341340.1:p.Ala1555Thr
NM_001354420.2:c.4476+1175G>A NP_001341349.1:n.4476+1175G>A
NM_001354429.2:c.4605+1175G>A NP_001341358.1:n.4605+1175G>A
NM_001384140.1:c.4671+1175G>A MANE Select NP_001371069.1:n.4671+1175G>A