Canonical Allele Identifier: CA16609567
Gene: PCDH15 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 402273
ClinVar RCV Id: RCV000454314
dbSNP Id: rs1056396947

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53809339G>A , CM000672.2:g.53809339G>A GRCh38
NC_000010.9:g.55239105G>A NCBI36
NC_000010.10:g.55569099G>A , CM000672.1:g.55569099G>A GRCh37
NG_009191.2:g.996953C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373965.6:c.4482+1217C>T ENSP00000363076.3:p.=
ENST00000395438.5:c.*141C>T ENSP00000378826.2:p.=
ENST00000395440.5:c.1513C>T ENSP00000378827.1:p.Gln505Ter
ENST00000395442.5:c.1306C>T ENSP00000378829.1:p.Gln436Ter
ENST00000395445.5:c.4705C>T ENSP00000378832.2:p.Gln1569Ter
ENST00000395446.5:c.2299C>T ENSP00000378833.1:p.Gln767Ter
ENST00000409834.5:c.*141C>T ENSP00000386693.1:p.=
ENST00000414367.5:c.*764C>T ENSP00000412531.1:p.=
ENST00000414778.5:c.4479+1217C>T ENSP00000410304.2:p.=
ENST00000476074.5:n.609+1217C>T
ENST00000495484.5:c.699+1217C>T ENSP00000480780.1:p.=
ENST00000612394.4:c.4723C>T ENSP00000482921.1:p.Gln1575Ter
ENST00000613657.4:c.4726C>T ENSP00000482794.1:p.Gln1576Ter
ENST00000614895.4:c.4494+1217C>T ENSP00000478512.1:p.=
ENST00000615043.1:n.326C>T
ENST00000616114.4:c.4476+1217C>T ENSP00000483745.1:p.=
ENST00000617271.4:c.*141C>T ENSP00000478076.1:p.=
ENST00000618301.4:n.831+1217C>T ENSP00000482780.1:p.=
ENST00000621708.4:c.4497+1217C>T ENSP00000484454.1:p.=
NM_001142769.1:c.4726C>T VV NP_001136241.1:p.Gln1576Ter
NM_001142770.1:c.*141C>T VV NP_001136242.1:p.=
NM_001142771.1:c.4497+1217C>T VV NP_001136243.1:p.=
NM_001142772.1:c.4482+1217C>T VV NP_001136244.1:p.=