Canonical Allele Identifier: CA376515882

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566423A>T (hg19) ; chr10:g.53806663A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806663A>T , CM000672.2:g.53806663A>T	GRCh38
NC_000010.10:g.55566423A>T , CM000672.1:g.55566423A>T	GRCh37
NC_000010.9:g.55236429A>T	NCBI36
NG_009191.2:g.999629T>A
NG_009191.3:g.1827520T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3998T>A
ENST00000644397.2:c.5139T>A MANE Select	ENSP00000495195.1:p.Phe1713Leu
ENST00000373965.6:c.4950T>A	ENSP00000363076.3:p.Phe1650Leu
ENST00000414778.5:c.4947T>A	ENSP00000410304.2:p.Phe1649Leu
ENST00000495484.5:c.1167T>A	ENSP00000480780.1:p.Phe389Leu
ENST00000614895.4:c.4962T>A	ENSP00000478512.1:p.Phe1654Leu
ENST00000616114.4:c.4944T>A	ENSP00000483745.1:p.Phe1648Leu
ENST00000618301.4:c.1299T>A	ENSP00000482780.1:p.Phe433Leu
ENST00000621708.4:c.4965T>A	ENSP00000484454.1:p.Phe1655Leu
NM_001142771.1:c.4965T>A	NP_001136243.1:p.Phe1655Leu
NM_001142772.1:c.4950T>A	NP_001136244.1:p.Phe1650Leu
NM_001354420.1:c.4944T>A	NP_001341349.1:p.Phe1648Leu
NM_001354429.1:c.5073T>A	NP_001341358.1:p.Phe1691Leu
XR_001747192.2:n.11431T>A
XR_001747193.2:n.11422T>A
NM_001142771.2:c.4965T>A	NP_001136243.1:p.Phe1655Leu
NM_001142772.2:c.4950T>A	NP_001136244.1:p.Phe1650Leu
NM_001354420.2:c.4944T>A	NP_001341349.1:p.Phe1648Leu
NM_001354429.2:c.5073T>A	NP_001341358.1:p.Phe1691Leu
NM_001384140.1:c.5139T>A MANE Select	NP_001371069.1:p.Phe1713Leu