Canonical Allele Identifier: CA469545848

Gene: PCDH15

Linked Data

• COSMIC: COSM5598605
• MyVariant Identifiers: chr10:g.55566447C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806687C>T , CM000672.2:g.53806687C>T	GRCh38
NC_000010.10:g.55566447C>T , CM000672.1:g.55566447C>T	GRCh37
NC_000010.9:g.55236453C>T	NCBI36
NG_009191.2:g.999605G>A
NG_009191.3:g.1827496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3974G>A
ENST00000644397.2:c.5115G>A MANE Select	ENSP00000495195.1:p.Lys1705=
ENST00000373965.6:c.4926G>A	ENSP00000363076.3:p.Lys1642=
ENST00000414778.5:c.4923G>A	ENSP00000410304.2:p.Lys1641=
ENST00000495484.5:c.1143G>A	ENSP00000480780.1:p.Lys381=
ENST00000614895.4:c.4938G>A	ENSP00000478512.1:p.Lys1646=
ENST00000616114.4:c.4920G>A	ENSP00000483745.1:p.Lys1640=
ENST00000618301.4:c.1275G>A	ENSP00000482780.1:p.Lys425=
ENST00000621708.4:c.4941G>A	ENSP00000484454.1:p.Lys1647=
NM_001142771.1:c.4941G>A	NP_001136243.1:p.Lys1647=
NM_001142772.1:c.4926G>A	NP_001136244.1:p.Lys1642=
NM_001354420.1:c.4920G>A	NP_001341349.1:p.Lys1640=
NM_001354429.1:c.5049G>A	NP_001341358.1:p.Lys1683=
XR_001747192.2:n.11407G>A
XR_001747193.2:n.11398G>A
NM_001142771.2:c.4941G>A	NP_001136243.1:p.Lys1647=
NM_001142772.2:c.4926G>A	NP_001136244.1:p.Lys1642=
NM_001354420.2:c.4920G>A	NP_001341349.1:p.Lys1640=
NM_001354429.2:c.5049G>A	NP_001341358.1:p.Lys1683=
NM_001384140.1:c.5115G>A MANE Select	NP_001371069.1:p.Lys1705=