Canonical Allele Identifier: CA469545880
Gene: PCDH15 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.55566507C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806747C>G , CM000672.2:g.53806747C>G GRCh38
NC_000010.10:g.55566507C>G , CM000672.1:g.55566507C>G GRCh37
NC_000010.9:g.55236513C>G NCBI36
NG_009191.2:g.999545G>C
NG_009191.3:g.1827436G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.3914G>C
ENST00000644397.2:c.5055G>C MANE Select ENSP00000495195.1:p.Val1685=
ENST00000373965.6:c.4866G>C ENSP00000363076.3:p.Val1622=
ENST00000414778.5:c.4863G>C ENSP00000410304.2:p.Val1621=
ENST00000495484.5:c.1083G>C ENSP00000480780.1:p.Val361=
ENST00000614895.4:c.4878G>C ENSP00000478512.1:p.Val1626=
ENST00000616114.4:c.4860G>C ENSP00000483745.1:p.Val1620=
ENST00000618301.4:c.1215G>C ENSP00000482780.1:p.Val405=
ENST00000621708.4:c.4881G>C ENSP00000484454.1:p.Val1627=
NM_001142771.1:c.4881G>C NP_001136243.1:p.Val1627=
NM_001142772.1:c.4866G>C NP_001136244.1:p.Val1622=
NM_001354420.1:c.4860G>C NP_001341349.1:p.Val1620=
NM_001354429.1:c.4989G>C NP_001341358.1:p.Val1663=
XR_001747192.2:n.11347G>C
XR_001747193.2:n.11338G>C
NM_001142771.2:c.4881G>C NP_001136243.1:p.Val1627=
NM_001142772.2:c.4866G>C NP_001136244.1:p.Val1622=
NM_001354420.2:c.4860G>C NP_001341349.1:p.Val1620=
NM_001354429.2:c.4989G>C NP_001341358.1:p.Val1663=
NM_001384140.1:c.5055G>C MANE Select NP_001371069.1:p.Val1685=