Canonical Allele Identifier: CA376516034

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566463G>C (hg19) ; chr10:g.53806703G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806703G>C , CM000672.2:g.53806703G>C	GRCh38
NC_000010.10:g.55566463G>C , CM000672.1:g.55566463G>C	GRCh37
NC_000010.9:g.55236469G>C	NCBI36
NG_009191.2:g.999589C>G
NG_009191.3:g.1827480C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.3958C>G
ENST00000644397.2:c.5099C>G MANE Select	ENSP00000495195.1:p.Ser1700Cys
ENST00000373965.6:c.4910C>G	ENSP00000363076.3:p.Ser1637Cys
ENST00000414778.5:c.4907C>G	ENSP00000410304.2:p.Ser1636Cys
ENST00000495484.5:c.1127C>G	ENSP00000480780.1:p.Ser376Cys
ENST00000614895.4:c.4922C>G	ENSP00000478512.1:p.Ser1641Cys
ENST00000616114.4:c.4904C>G	ENSP00000483745.1:p.Ser1635Cys
ENST00000618301.4:c.1259C>G	ENSP00000482780.1:p.Ser420Cys
ENST00000621708.4:c.4925C>G	ENSP00000484454.1:p.Ser1642Cys
NM_001142771.1:c.4925C>G	NP_001136243.1:p.Ser1642Cys
NM_001142772.1:c.4910C>G	NP_001136244.1:p.Ser1637Cys
NM_001354420.1:c.4904C>G	NP_001341349.1:p.Ser1635Cys
NM_001354429.1:c.5033C>G	NP_001341358.1:p.Ser1678Cys
XR_001747192.2:n.11391C>G
XR_001747193.2:n.11382C>G
NM_001142771.2:c.4925C>G	NP_001136243.1:p.Ser1642Cys
NM_001142772.2:c.4910C>G	NP_001136244.1:p.Ser1637Cys
NM_001354420.2:c.4904C>G	NP_001341349.1:p.Ser1635Cys
NM_001354429.2:c.5033C>G	NP_001341358.1:p.Ser1678Cys
NM_001384140.1:c.5099C>G MANE Select	NP_001371069.1:p.Ser1700Cys