Canonical Allele Identifier: CA376515756

Gene: PCDH15

Linked Data

• COSMIC: COSM5469420
• MyVariant Identifiers: chr10:g.55566379C>G (hg19) ; chr10:g.53806619C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806619C>G , CM000672.2:g.53806619C>G	GRCh38
NC_000010.10:g.55566379C>G , CM000672.1:g.55566379C>G	GRCh37
NC_000010.9:g.55236385C>G	NCBI36
NG_009191.2:g.999673G>C
NG_009191.3:g.1827564G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4042G>C
ENST00000644397.2:c.5183G>C MANE Select	ENSP00000495195.1:p.Gly1728Ala
ENST00000373965.6:c.4994G>C	ENSP00000363076.3:p.Gly1665Ala
ENST00000414778.5:c.4991G>C	ENSP00000410304.2:p.Gly1664Ala
ENST00000495484.5:c.1211G>C	ENSP00000480780.1:p.Gly404Ala
ENST00000614895.4:c.5006G>C	ENSP00000478512.1:p.Gly1669Ala
ENST00000616114.4:c.4988G>C	ENSP00000483745.1:p.Gly1663Ala
ENST00000618301.4:c.1343G>C	ENSP00000482780.1:p.Gly448Ala
ENST00000621708.4:c.5009G>C	ENSP00000484454.1:p.Gly1670Ala
NM_001142771.1:c.5009G>C	NP_001136243.1:p.Gly1670Ala
NM_001142772.1:c.4994G>C	NP_001136244.1:p.Gly1665Ala
NM_001354420.1:c.4988G>C	NP_001341349.1:p.Gly1663Ala
NM_001354429.1:c.5117G>C	NP_001341358.1:p.Gly1706Ala
XR_001747192.2:n.11475G>C
XR_001747193.2:n.11466G>C
NM_001142771.2:c.5009G>C	NP_001136243.1:p.Gly1670Ala
NM_001142772.2:c.4994G>C	NP_001136244.1:p.Gly1665Ala
NM_001354420.2:c.4988G>C	NP_001341349.1:p.Gly1663Ala
NM_001354429.2:c.5117G>C	NP_001341358.1:p.Gly1706Ala
NM_001384140.1:c.5183G>C MANE Select	NP_001371069.1:p.Gly1728Ala