Canonical Allele Identifier: CA376515726

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566367T>A (hg19) ; chr10:g.53806607T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806607T>A , CM000672.2:g.53806607T>A	GRCh38
NC_000010.10:g.55566367T>A , CM000672.1:g.55566367T>A	GRCh37
NC_000010.9:g.55236373T>A	NCBI36
NG_009191.2:g.999685A>T
NG_009191.3:g.1827576A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.4054A>T
ENST00000644397.2:c.5195A>T MANE Select	ENSP00000495195.1:p.Asn1732Ile
ENST00000373965.6:c.5006A>T	ENSP00000363076.3:p.Asn1669Ile
ENST00000414778.5:c.5003A>T	ENSP00000410304.2:p.Asn1668Ile
ENST00000495484.5:c.1223A>T	ENSP00000480780.1:p.Asn408Ile
ENST00000614895.4:c.5018A>T	ENSP00000478512.1:p.Asn1673Ile
ENST00000616114.4:c.5000A>T	ENSP00000483745.1:p.Asn1667Ile
ENST00000618301.4:c.1355A>T	ENSP00000482780.1:p.Asn452Ile
ENST00000621708.4:c.5021A>T	ENSP00000484454.1:p.Asn1674Ile
NM_001142771.1:c.5021A>T	NP_001136243.1:p.Asn1674Ile
NM_001142772.1:c.5006A>T	NP_001136244.1:p.Asn1669Ile
NM_001354420.1:c.5000A>T	NP_001341349.1:p.Asn1667Ile
NM_001354429.1:c.5129A>T	NP_001341358.1:p.Asn1710Ile
XR_001747192.2:n.11487A>T
XR_001747193.2:n.11478A>T
NM_001142771.2:c.5021A>T	NP_001136243.1:p.Asn1674Ile
NM_001142772.2:c.5006A>T	NP_001136244.1:p.Asn1669Ile
NM_001354420.2:c.5000A>T	NP_001341349.1:p.Asn1667Ile
NM_001354429.2:c.5129A>T	NP_001341358.1:p.Asn1710Ile
NM_001384140.1:c.5195A>T MANE Select	NP_001371069.1:p.Asn1732Ile