Canonical Allele Identifier: CA469545920
Gene: PCDH15 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.55566558T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806798T>G , CM000672.2:g.53806798T>G GRCh38
NC_000010.10:g.55566558T>G , CM000672.1:g.55566558T>G GRCh37
NC_000010.9:g.55236564T>G NCBI36
NG_009191.2:g.999494A>C
NG_009191.3:g.1827385A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.3863A>C
ENST00000644397.2:c.5004A>C MANE Select ENSP00000495195.1:p.Pro1668=
ENST00000373965.6:c.4815A>C ENSP00000363076.3:p.Pro1605=
ENST00000414778.5:c.4812A>C ENSP00000410304.2:p.Pro1604=
ENST00000495484.5:c.1032A>C ENSP00000480780.1:p.Pro344=
ENST00000614895.4:c.4827A>C ENSP00000478512.1:p.Pro1609=
ENST00000616114.4:c.4809A>C ENSP00000483745.1:p.Pro1603=
ENST00000618301.4:c.1164A>C ENSP00000482780.1:p.Pro388=
ENST00000621708.4:c.4830A>C ENSP00000484454.1:p.Pro1610=
NM_001142771.1:c.4830A>C NP_001136243.1:p.Pro1610=
NM_001142772.1:c.4815A>C NP_001136244.1:p.Pro1605=
NM_001354420.1:c.4809A>C NP_001341349.1:p.Pro1603=
NM_001354429.1:c.4938A>C NP_001341358.1:p.Pro1646=
XR_001747192.2:n.11296A>C
XR_001747193.2:n.11287A>C
NM_001142771.2:c.4830A>C NP_001136243.1:p.Pro1610=
NM_001142772.2:c.4815A>C NP_001136244.1:p.Pro1605=
NM_001354420.2:c.4809A>C NP_001341349.1:p.Pro1603=
NM_001354429.2:c.4938A>C NP_001341358.1:p.Pro1646=
NM_001384140.1:c.5004A>C MANE Select NP_001371069.1:p.Pro1668=