Canonical Allele Identifier: CA376515967

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566444G>T (hg19) ; chr10:g.53806684G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806684G>T , CM000672.2:g.53806684G>T	GRCh38
NC_000010.10:g.55566444G>T , CM000672.1:g.55566444G>T	GRCh37
NC_000010.9:g.55236450G>T	NCBI36
NG_009191.2:g.999608C>A
NG_009191.3:g.1827499C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3977C>A
ENST00000644397.2:c.5118C>A MANE Select	ENSP00000495195.1:p.Asn1706Lys
ENST00000373965.6:c.4929C>A	ENSP00000363076.3:p.Asn1643Lys
ENST00000414778.5:c.4926C>A	ENSP00000410304.2:p.Asn1642Lys
ENST00000495484.5:c.1146C>A	ENSP00000480780.1:p.Asn382Lys
ENST00000614895.4:c.4941C>A	ENSP00000478512.1:p.Asn1647Lys
ENST00000616114.4:c.4923C>A	ENSP00000483745.1:p.Asn1641Lys
ENST00000618301.4:c.1278C>A	ENSP00000482780.1:p.Asn426Lys
ENST00000621708.4:c.4944C>A	ENSP00000484454.1:p.Asn1648Lys
NM_001142771.1:c.4944C>A	NP_001136243.1:p.Asn1648Lys
NM_001142772.1:c.4929C>A	NP_001136244.1:p.Asn1643Lys
NM_001354420.1:c.4923C>A	NP_001341349.1:p.Asn1641Lys
NM_001354429.1:c.5052C>A	NP_001341358.1:p.Asn1684Lys
XR_001747192.2:n.11410C>A
XR_001747193.2:n.11401C>A
NM_001142771.2:c.4944C>A	NP_001136243.1:p.Asn1648Lys
NM_001142772.2:c.4929C>A	NP_001136244.1:p.Asn1643Lys
NM_001354420.2:c.4923C>A	NP_001341349.1:p.Asn1641Lys
NM_001354429.2:c.5052C>A	NP_001341358.1:p.Asn1684Lys
NM_001384140.1:c.5118C>A MANE Select	NP_001371069.1:p.Asn1706Lys