Canonical Allele Identifier: CA469545824
Gene: PCDH15 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.55566387A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806627A>G , CM000672.2:g.53806627A>G GRCh38
NC_000010.10:g.55566387A>G , CM000672.1:g.55566387A>G GRCh37
NC_000010.9:g.55236393A>G NCBI36
NG_009191.2:g.999665T>C
NG_009191.3:g.1827556T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.4034T>C
ENST00000644397.2:c.5175T>C MANE Select ENSP00000495195.1:p.Leu1725=
ENST00000373965.6:c.4986T>C ENSP00000363076.3:p.Leu1662=
ENST00000414778.5:c.4983T>C ENSP00000410304.2:p.Leu1661=
ENST00000495484.5:c.1203T>C ENSP00000480780.1:p.Leu401=
ENST00000614895.4:c.4998T>C ENSP00000478512.1:p.Leu1666=
ENST00000616114.4:c.4980T>C ENSP00000483745.1:p.Leu1660=
ENST00000618301.4:c.1335T>C ENSP00000482780.1:p.Leu445=
ENST00000621708.4:c.5001T>C ENSP00000484454.1:p.Leu1667=
NM_001142771.1:c.5001T>C NP_001136243.1:p.Leu1667=
NM_001142772.1:c.4986T>C NP_001136244.1:p.Leu1662=
NM_001354420.1:c.4980T>C NP_001341349.1:p.Leu1660=
NM_001354429.1:c.5109T>C NP_001341358.1:p.Leu1703=
XR_001747192.2:n.11467T>C
XR_001747193.2:n.11458T>C
NM_001142771.2:c.5001T>C NP_001136243.1:p.Leu1667=
NM_001142772.2:c.4986T>C NP_001136244.1:p.Leu1662=
NM_001354420.2:c.4980T>C NP_001341349.1:p.Leu1660=
NM_001354429.2:c.5109T>C NP_001341358.1:p.Leu1703=
NM_001384140.1:c.5175T>C MANE Select NP_001371069.1:p.Leu1725=