Canonical Allele Identifier: CA376515725

Gene: PCDH15

Linked Data

• dbSNP Id: rs1841179060
• MyVariant Identifiers: chr10:g.55566366G>T (hg19) ; chr10:g.53806606G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806606G>T , CM000672.2:g.53806606G>T	GRCh38
NC_000010.10:g.55566366G>T , CM000672.1:g.55566366G>T	GRCh37
NC_000010.9:g.55236372G>T	NCBI36
NG_009191.2:g.999686C>A
NG_009191.3:g.1827577C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.4055C>A
ENST00000644397.2:c.5196C>A MANE Select	ENSP00000495195.1:p.Asn1732Lys
ENST00000373965.6:c.5007C>A	ENSP00000363076.3:p.Asn1669Lys
ENST00000414778.5:c.5004C>A	ENSP00000410304.2:p.Asn1668Lys
ENST00000495484.5:c.1224C>A	ENSP00000480780.1:p.Asn408Lys
ENST00000614895.4:c.5019C>A	ENSP00000478512.1:p.Asn1673Lys
ENST00000616114.4:c.5001C>A	ENSP00000483745.1:p.Asn1667Lys
ENST00000618301.4:c.1356C>A	ENSP00000482780.1:p.Asn452Lys
ENST00000621708.4:c.5022C>A	ENSP00000484454.1:p.Asn1674Lys
NM_001142771.1:c.5022C>A	NP_001136243.1:p.Asn1674Lys
NM_001142772.1:c.5007C>A	NP_001136244.1:p.Asn1669Lys
NM_001354420.1:c.5001C>A	NP_001341349.1:p.Asn1667Lys
NM_001354429.1:c.5130C>A	NP_001341358.1:p.Asn1710Lys
XR_001747192.2:n.11488C>A
XR_001747193.2:n.11479C>A
NM_001142771.2:c.5022C>A	NP_001136243.1:p.Asn1674Lys
NM_001142772.2:c.5007C>A	NP_001136244.1:p.Asn1669Lys
NM_001354420.2:c.5001C>A	NP_001341349.1:p.Asn1667Lys
NM_001354429.2:c.5130C>A	NP_001341358.1:p.Asn1710Lys
NM_001384140.1:c.5196C>A MANE Select	NP_001371069.1:p.Asn1732Lys