Canonical Allele Identifier: CA376515823

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566407G>T (hg19) ; chr10:g.53806647G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806647G>T , CM000672.2:g.53806647G>T	GRCh38
NC_000010.10:g.55566407G>T , CM000672.1:g.55566407G>T	GRCh37
NC_000010.9:g.55236413G>T	NCBI36
NG_009191.2:g.999645C>A
NG_009191.3:g.1827536C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4014C>A
ENST00000644397.2:c.5155C>A MANE Select	ENSP00000495195.1:p.Gln1719Lys
ENST00000373965.6:c.4966C>A	ENSP00000363076.3:p.Gln1656Lys
ENST00000414778.5:c.4963C>A	ENSP00000410304.2:p.Gln1655Lys
ENST00000495484.5:c.1183C>A	ENSP00000480780.1:p.Gln395Lys
ENST00000614895.4:c.4978C>A	ENSP00000478512.1:p.Gln1660Lys
ENST00000616114.4:c.4960C>A	ENSP00000483745.1:p.Gln1654Lys
ENST00000618301.4:c.1315C>A	ENSP00000482780.1:p.Gln439Lys
ENST00000621708.4:c.4981C>A	ENSP00000484454.1:p.Gln1661Lys
NM_001142771.1:c.4981C>A	NP_001136243.1:p.Gln1661Lys
NM_001142772.1:c.4966C>A	NP_001136244.1:p.Gln1656Lys
NM_001354420.1:c.4960C>A	NP_001341349.1:p.Gln1654Lys
NM_001354429.1:c.5089C>A	NP_001341358.1:p.Gln1697Lys
XR_001747192.2:n.11447C>A
XR_001747193.2:n.11438C>A
NM_001142771.2:c.4981C>A	NP_001136243.1:p.Gln1661Lys
NM_001142772.2:c.4966C>A	NP_001136244.1:p.Gln1656Lys
NM_001354420.2:c.4960C>A	NP_001341349.1:p.Gln1654Lys
NM_001354429.2:c.5089C>A	NP_001341358.1:p.Gln1697Lys
NM_001384140.1:c.5155C>A MANE Select	NP_001371069.1:p.Gln1719Lys