Canonical Allele Identifier: CA376516518
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs1333745455

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806810C>T , CM000672.2:g.53806810C>T GRCh38
NC_000010.10:g.55566570C>T , CM000672.1:g.55566570C>T GRCh37
NC_000010.9:g.55236576C>T NCBI36
NG_009191.2:g.999482G>A
NG_009191.3:g.1827373G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.3851G>A
ENST00000644397.2:c.4992G>A MANE Select ENSP00000495195.1:p.Met1664Ile
ENST00000373965.6:c.4803G>A ENSP00000363076.3:p.Met1601Ile
ENST00000414778.5:c.4800G>A ENSP00000410304.2:p.Met1600Ile
ENST00000495484.5:c.1020G>A ENSP00000480780.1:p.Met340Ile
ENST00000614895.4:c.4815G>A ENSP00000478512.1:p.Met1605Ile
ENST00000616114.4:c.4797G>A ENSP00000483745.1:p.Met1599Ile
ENST00000618301.4:c.1152G>A ENSP00000482780.1:p.Met384Ile
ENST00000621708.4:c.4818G>A ENSP00000484454.1:p.Met1606Ile
NM_001142771.1:c.4818G>A NP_001136243.1:p.Met1606Ile
NM_001142772.1:c.4803G>A NP_001136244.1:p.Met1601Ile
NM_001354420.1:c.4797G>A NP_001341349.1:p.Met1599Ile
NM_001354429.1:c.4926G>A NP_001341358.1:p.Met1642Ile
XR_001747192.2:n.11284G>A
XR_001747193.2:n.11275G>A
NM_001142771.2:c.4818G>A NP_001136243.1:p.Met1606Ile
NM_001142772.2:c.4803G>A NP_001136244.1:p.Met1601Ile
NM_001354420.2:c.4797G>A NP_001341349.1:p.Met1599Ile
NM_001354429.2:c.4926G>A NP_001341358.1:p.Met1642Ile
NM_001384140.1:c.4992G>A MANE Select NP_001371069.1:p.Met1664Ile