Canonical Allele Identifier: CA469545240
Gene: PCDH15 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.55566375G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806615G>C , CM000672.2:g.53806615G>C GRCh38
NC_000010.10:g.55566375G>C , CM000672.1:g.55566375G>C GRCh37
NC_000010.9:g.55236381G>C NCBI36
NG_009191.2:g.999677C>G
NG_009191.3:g.1827568C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.4046C>G
ENST00000644397.2:c.5187C>G MANE Select ENSP00000495195.1:p.Pro1729=
ENST00000373965.6:c.4998C>G ENSP00000363076.3:p.Pro1666=
ENST00000414778.5:c.4995C>G ENSP00000410304.2:p.Pro1665=
ENST00000495484.5:c.1215C>G ENSP00000480780.1:p.Pro405=
ENST00000614895.4:c.5010C>G ENSP00000478512.1:p.Pro1670=
ENST00000616114.4:c.4992C>G ENSP00000483745.1:p.Pro1664=
ENST00000618301.4:c.1347C>G ENSP00000482780.1:p.Pro449=
ENST00000621708.4:c.5013C>G ENSP00000484454.1:p.Pro1671=
NM_001142771.1:c.5013C>G NP_001136243.1:p.Pro1671=
NM_001142772.1:c.4998C>G NP_001136244.1:p.Pro1666=
NM_001354420.1:c.4992C>G NP_001341349.1:p.Pro1664=
NM_001354429.1:c.5121C>G NP_001341358.1:p.Pro1707=
XR_001747192.2:n.11479C>G
XR_001747193.2:n.11470C>G
NM_001142771.2:c.5013C>G NP_001136243.1:p.Pro1671=
NM_001142772.2:c.4998C>G NP_001136244.1:p.Pro1666=
NM_001354420.2:c.4992C>G NP_001341349.1:p.Pro1664=
NM_001354429.2:c.5121C>G NP_001341358.1:p.Pro1707=
NM_001384140.1:c.5187C>G MANE Select NP_001371069.1:p.Pro1729=