Canonical Allele Identifier: CA376515721
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806604A>G , CM000672.2:g.53806604A>G GRCh38
NC_000010.10:g.55566364A>G , CM000672.1:g.55566364A>G GRCh37
NC_000010.9:g.55236370A>G NCBI36
NG_009191.2:g.999688T>C
NG_009191.3:g.1827579T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642496.1:c.4057T>C
ENST00000644397.2:c.5198T>C MANE Select ENSP00000495195.1:p.Leu1733Pro
ENST00000373965.6:c.5009T>C ENSP00000363076.3:p.Leu1670Pro
ENST00000414778.5:c.5006T>C ENSP00000410304.2:p.Leu1669Pro
ENST00000495484.5:c.1226T>C ENSP00000480780.1:p.Leu409Pro
ENST00000614895.4:c.5021T>C ENSP00000478512.1:p.Leu1674Pro
ENST00000616114.4:c.5003T>C ENSP00000483745.1:p.Leu1668Pro
ENST00000618301.4:c.1358T>C ENSP00000482780.1:p.Leu453Pro
ENST00000621708.4:c.5024T>C ENSP00000484454.1:p.Leu1675Pro
NM_001142771.1:c.5024T>C NP_001136243.1:p.Leu1675Pro
NM_001142772.1:c.5009T>C NP_001136244.1:p.Leu1670Pro
NM_001354420.1:c.5003T>C NP_001341349.1:p.Leu1668Pro
NM_001354429.1:c.5132T>C NP_001341358.1:p.Leu1711Pro
XR_001747192.2:n.11490T>C
XR_001747193.2:n.11481T>C
NM_001142771.2:c.5024T>C NP_001136243.1:p.Leu1675Pro
NM_001142772.2:c.5009T>C NP_001136244.1:p.Leu1670Pro
NM_001354420.2:c.5003T>C NP_001341349.1:p.Leu1668Pro
NM_001354429.2:c.5132T>C NP_001341358.1:p.Leu1711Pro
NM_001384140.1:c.5198T>C MANE Select NP_001371069.1:p.Leu1733Pro