Canonical Allele Identifier: CA376515720

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566364A>C (hg19) ; chr10:g.53806604A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806604A>C , CM000672.2:g.53806604A>C	GRCh38
NC_000010.10:g.55566364A>C , CM000672.1:g.55566364A>C	GRCh37
NC_000010.9:g.55236370A>C	NCBI36
NG_009191.2:g.999688T>G
NG_009191.3:g.1827579T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.4057T>G
ENST00000644397.2:c.5198T>G MANE Select	ENSP00000495195.1:p.Leu1733Arg
ENST00000373965.6:c.5009T>G	ENSP00000363076.3:p.Leu1670Arg
ENST00000414778.5:c.5006T>G	ENSP00000410304.2:p.Leu1669Arg
ENST00000495484.5:c.1226T>G	ENSP00000480780.1:p.Leu409Arg
ENST00000614895.4:c.5021T>G	ENSP00000478512.1:p.Leu1674Arg
ENST00000616114.4:c.5003T>G	ENSP00000483745.1:p.Leu1668Arg
ENST00000618301.4:c.1358T>G	ENSP00000482780.1:p.Leu453Arg
ENST00000621708.4:c.5024T>G	ENSP00000484454.1:p.Leu1675Arg
NM_001142771.1:c.5024T>G	NP_001136243.1:p.Leu1675Arg
NM_001142772.1:c.5009T>G	NP_001136244.1:p.Leu1670Arg
NM_001354420.1:c.5003T>G	NP_001341349.1:p.Leu1668Arg
NM_001354429.1:c.5132T>G	NP_001341358.1:p.Leu1711Arg
XR_001747192.2:n.11490T>G
XR_001747193.2:n.11481T>G
NM_001142771.2:c.5024T>G	NP_001136243.1:p.Leu1675Arg
NM_001142772.2:c.5009T>G	NP_001136244.1:p.Leu1670Arg
NM_001354420.2:c.5003T>G	NP_001341349.1:p.Leu1668Arg
NM_001354429.2:c.5132T>G	NP_001341358.1:p.Leu1711Arg
NM_001384140.1:c.5198T>G MANE Select	NP_001371069.1:p.Leu1733Arg