Canonical Allele Identifier: CA376516069

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566471T>G (hg19) ; chr10:g.53806711T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806711T>G , CM000672.2:g.53806711T>G	GRCh38
NC_000010.10:g.55566471T>G , CM000672.1:g.55566471T>G	GRCh37
NC_000010.9:g.55236477T>G	NCBI36
NG_009191.2:g.999581A>C
NG_009191.3:g.1827472A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.3950A>C
ENST00000644397.2:c.5091A>C MANE Select	ENSP00000495195.1:p.Glu1697Asp
ENST00000373965.6:c.4902A>C	ENSP00000363076.3:p.Glu1634Asp
ENST00000414778.5:c.4899A>C	ENSP00000410304.2:p.Glu1633Asp
ENST00000495484.5:c.1119A>C	ENSP00000480780.1:p.Glu373Asp
ENST00000614895.4:c.4914A>C	ENSP00000478512.1:p.Glu1638Asp
ENST00000616114.4:c.4896A>C	ENSP00000483745.1:p.Glu1632Asp
ENST00000618301.4:c.1251A>C	ENSP00000482780.1:p.Glu417Asp
ENST00000621708.4:c.4917A>C	ENSP00000484454.1:p.Glu1639Asp
NM_001142771.1:c.4917A>C	NP_001136243.1:p.Glu1639Asp
NM_001142772.1:c.4902A>C	NP_001136244.1:p.Glu1634Asp
NM_001354420.1:c.4896A>C	NP_001341349.1:p.Glu1632Asp
NM_001354429.1:c.5025A>C	NP_001341358.1:p.Glu1675Asp
XR_001747192.2:n.11383A>C
XR_001747193.2:n.11374A>C
NM_001142771.2:c.4917A>C	NP_001136243.1:p.Glu1639Asp
NM_001142772.2:c.4902A>C	NP_001136244.1:p.Glu1634Asp
NM_001354420.2:c.4896A>C	NP_001341349.1:p.Glu1632Asp
NM_001354429.2:c.5025A>C	NP_001341358.1:p.Glu1675Asp
NM_001384140.1:c.5091A>C MANE Select	NP_001371069.1:p.Glu1697Asp