Canonical Allele Identifier: CA376515743

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566373C>T (hg19) ; chr10:g.53806613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806613C>T , CM000672.2:g.53806613C>T	GRCh38
NC_000010.10:g.55566373C>T , CM000672.1:g.55566373C>T	GRCh37
NC_000010.9:g.55236379C>T	NCBI36
NG_009191.2:g.999679G>A
NG_009191.3:g.1827570G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4048G>A
ENST00000644397.2:c.5189G>A MANE Select	ENSP00000495195.1:p.Trp1730Ter
ENST00000373965.6:c.5000G>A	ENSP00000363076.3:p.Trp1667Ter
ENST00000414778.5:c.4997G>A	ENSP00000410304.2:p.Trp1666Ter
ENST00000495484.5:c.1217G>A	ENSP00000480780.1:p.Trp406Ter
ENST00000614895.4:c.5012G>A	ENSP00000478512.1:p.Trp1671Ter
ENST00000616114.4:c.4994G>A	ENSP00000483745.1:p.Trp1665Ter
ENST00000618301.4:c.1349G>A	ENSP00000482780.1:p.Trp450Ter
ENST00000621708.4:c.5015G>A	ENSP00000484454.1:p.Trp1672Ter
NM_001142771.1:c.5015G>A	NP_001136243.1:p.Trp1672Ter
NM_001142772.1:c.5000G>A	NP_001136244.1:p.Trp1667Ter
NM_001354420.1:c.4994G>A	NP_001341349.1:p.Trp1665Ter
NM_001354429.1:c.5123G>A	NP_001341358.1:p.Trp1708Ter
XR_001747192.2:n.11481G>A
XR_001747193.2:n.11472G>A
NM_001142771.2:c.5015G>A	NP_001136243.1:p.Trp1672Ter
NM_001142772.2:c.5000G>A	NP_001136244.1:p.Trp1667Ter
NM_001354420.2:c.4994G>A	NP_001341349.1:p.Trp1665Ter
NM_001354429.2:c.5123G>A	NP_001341358.1:p.Trp1708Ter
NM_001384140.1:c.5189G>A MANE Select	NP_001371069.1:p.Trp1730Ter