Canonical Allele Identifier: CA469545223
Gene: PCDH15 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.55566345T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806585T>C , CM000672.2:g.53806585T>C GRCh38
NC_000010.10:g.55566345T>C , CM000672.1:g.55566345T>C GRCh37
NC_000010.9:g.55236351T>C NCBI36
NG_009191.2:g.999707A>G
NG_009191.3:g.1827598A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.4076A>G
ENST00000644397.2:c.5217A>G MANE Select ENSP00000495195.1:p.Lys1739=
ENST00000373965.6:c.5028A>G ENSP00000363076.3:p.Lys1676=
ENST00000414778.5:c.5025A>G ENSP00000410304.2:p.Lys1675=
ENST00000495484.5:c.1245A>G ENSP00000480780.1:p.Lys415=
ENST00000614895.4:c.5040A>G ENSP00000478512.1:p.Lys1680=
ENST00000616114.4:c.5022A>G ENSP00000483745.1:p.Lys1674=
ENST00000618301.4:c.1377A>G ENSP00000482780.1:p.Lys459=
ENST00000621708.4:c.5043A>G ENSP00000484454.1:p.Lys1681=
NM_001142771.1:c.5043A>G NP_001136243.1:p.Lys1681=
NM_001142772.1:c.5028A>G NP_001136244.1:p.Lys1676=
NM_001354420.1:c.5022A>G NP_001341349.1:p.Lys1674=
NM_001354429.1:c.5151A>G NP_001341358.1:p.Lys1717=
XR_001747192.2:n.11509A>G
XR_001747193.2:n.11500A>G
NM_001142771.2:c.5043A>G NP_001136243.1:p.Lys1681=
NM_001142772.2:c.5028A>G NP_001136244.1:p.Lys1676=
NM_001354420.2:c.5022A>G NP_001341349.1:p.Lys1674=
NM_001354429.2:c.5151A>G NP_001341358.1:p.Lys1717=
NM_001384140.1:c.5217A>G MANE Select NP_001371069.1:p.Lys1739=