Canonical Allele Identifier: CA376515633

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566341A>G (hg19) ; chr10:g.53806581A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806581A>G , CM000672.2:g.53806581A>G	GRCh38
NC_000010.10:g.55566341A>G , CM000672.1:g.55566341A>G	GRCh37
NC_000010.9:g.55236347A>G	NCBI36
NG_009191.2:g.999711T>C
NG_009191.3:g.1827602T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4080T>C
ENST00000644397.2:c.5221T>C MANE Select	ENSP00000495195.1:p.Ter1741Arg
ENST00000373965.6:c.5032T>C	ENSP00000363076.3:p.Ter1678Arg
ENST00000414778.5:c.5029T>C	ENSP00000410304.2:p.Ter1677Arg
ENST00000495484.5:c.1249T>C	ENSP00000480780.1:p.Ter417Arg
ENST00000614895.4:c.5044T>C	ENSP00000478512.1:p.Ter1682Arg
ENST00000616114.4:c.5026T>C	ENSP00000483745.1:p.Ter1676Arg
ENST00000618301.4:c.1381T>C	ENSP00000482780.1:p.Ter461Arg
ENST00000621708.4:c.5047T>C	ENSP00000484454.1:p.Ter1683Arg
NM_001142771.1:c.5047T>C	NP_001136243.1:p.Ter1683Arg
NM_001142772.1:c.5032T>C	NP_001136244.1:p.Ter1678Arg
NM_001354420.1:c.5026T>C	NP_001341349.1:p.Ter1676Arg
NM_001354429.1:c.5155T>C	NP_001341358.1:p.Ter1719Arg
XR_001747192.2:n.11513T>C
XR_001747193.2:n.11504T>C
NM_001142771.2:c.5047T>C	NP_001136243.1:p.Ter1683Arg
NM_001142772.2:c.5032T>C	NP_001136244.1:p.Ter1678Arg
NM_001354420.2:c.5026T>C	NP_001341349.1:p.Ter1676Arg
NM_001354429.2:c.5155T>C	NP_001341358.1:p.Ter1719Arg
NM_001384140.1:c.5221T>C MANE Select	NP_001371069.1:p.Ter1741Arg