Canonical Allele Identifier: CA469545849

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566450A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806690A>G , CM000672.2:g.53806690A>G	GRCh38
NC_000010.10:g.55566450A>G , CM000672.1:g.55566450A>G	GRCh37
NC_000010.9:g.55236456A>G	NCBI36
NG_009191.2:g.999602T>C
NG_009191.3:g.1827493T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3971T>C
ENST00000644397.2:c.5112T>C MANE Select	ENSP00000495195.1:p.Ser1704=
ENST00000373965.6:c.4923T>C	ENSP00000363076.3:p.Ser1641=
ENST00000414778.5:c.4920T>C	ENSP00000410304.2:p.Ser1640=
ENST00000495484.5:c.1140T>C	ENSP00000480780.1:p.Ser380=
ENST00000614895.4:c.4935T>C	ENSP00000478512.1:p.Ser1645=
ENST00000616114.4:c.4917T>C	ENSP00000483745.1:p.Ser1639=
ENST00000618301.4:c.1272T>C	ENSP00000482780.1:p.Ser424=
ENST00000621708.4:c.4938T>C	ENSP00000484454.1:p.Ser1646=
NM_001142771.1:c.4938T>C	NP_001136243.1:p.Ser1646=
NM_001142772.1:c.4923T>C	NP_001136244.1:p.Ser1641=
NM_001354420.1:c.4917T>C	NP_001341349.1:p.Ser1639=
NM_001354429.1:c.5046T>C	NP_001341358.1:p.Ser1682=
XR_001747192.2:n.11404T>C
XR_001747193.2:n.11395T>C
NM_001142771.2:c.4938T>C	NP_001136243.1:p.Ser1646=
NM_001142772.2:c.4923T>C	NP_001136244.1:p.Ser1641=
NM_001354420.2:c.4917T>C	NP_001341349.1:p.Ser1639=
NM_001354429.2:c.5046T>C	NP_001341358.1:p.Ser1682=
NM_001384140.1:c.5112T>C MANE Select	NP_001371069.1:p.Ser1704=