Canonical Allele Identifier: CA5504798

Gene: PCDH15

Linked Data

• dbSNP Id: rs770509014
• ExAC: 10:55569021 C / T
• gnomAD v2: 10-55569021-C-T
• gnomAD v4: 10-53809261-C-T
• MyVariant Identifiers: chr10:g.55569021C>T (hg19) ; chr10:g.53809261C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809261C>T , CM000672.2:g.53809261C>T	GRCh38
NC_000010.10:g.55569021C>T , CM000672.1:g.55569021C>T	GRCh37
NC_000010.9:g.55239027C>T	NCBI36
NG_009191.2:g.997031G>A
NG_009191.3:g.1824922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4804G>A	ENSP00000482794.1:p.Glu1602Lys
ENST00000395445.6:c.4783G>A	ENSP00000378832.2:p.Glu1595Lys
ENST00000613657.5:c.4804G>A	ENSP00000482794.1:p.Glu1602Lys
ENST00000642496.1:c.3530+1295G>A
ENST00000644397.2:c.4671+1295G>A MANE Select	ENSP00000495195.1:n.4671+1295G>A
ENST00000373965.6:c.4482+1295G>A	ENSP00000363076.3:n.4482+1295G>A
ENST00000395438.5:c.*219G>A	ENSP00000378826.2:n.*219G>A
ENST00000395440.5:c.1591G>A	ENSP00000378827.1:p.Glu531Lys
ENST00000395442.5:c.1384G>A	ENSP00000378829.1:p.Glu462Lys
ENST00000395445.5:c.4783G>A	ENSP00000378832.2:p.Glu1595Lys
ENST00000395446.5:c.2377G>A	ENSP00000378833.1:p.Glu793Lys
ENST00000409834.5:c.*219G>A	ENSP00000386693.1:n.*219G>A
ENST00000414367.5:c.*842G>A	ENSP00000412531.1:n.*842G>A
ENST00000414778.5:c.4479+1295G>A	ENSP00000410304.2:n.4479+1295G>A
ENST00000476074.5:n.609+1295G>A
ENST00000495484.5:c.699+1295G>A	ENSP00000480780.1:n.699+1295G>A
ENST00000612394.4:c.4801G>A	ENSP00000482921.1:p.Glu1601Lys
ENST00000613657.4:c.4804G>A	ENSP00000482794.1:p.Glu1602Lys
ENST00000614895.4:c.4494+1295G>A	ENSP00000478512.1:n.4494+1295G>A
ENST00000615043.1:c.404G>A
ENST00000616114.4:c.4476+1295G>A	ENSP00000483745.1:n.4476+1295G>A
ENST00000617271.4:c.*219G>A	ENSP00000478076.1:n.*219G>A
ENST00000618301.4:c.831+1295G>A	ENSP00000482780.1:n.831+1295G>A
ENST00000621708.4:c.4497+1295G>A	ENSP00000484454.1:n.4497+1295G>A
NM_001142769.1:c.4804G>A	NP_001136241.1:p.Glu1602Lys
NM_001142770.1:c.*219G>A	NP_001136242.1:n.*219G>A
NM_001142771.1:c.4497+1295G>A	NP_001136243.1:n.4497+1295G>A
NM_001142772.1:c.4482+1295G>A	NP_001136244.1:n.4482+1295G>A
NM_001142769.2:c.4804G>A	NP_001136241.1:p.Glu1602Lys
NM_001142770.2:c.*219G>A	NP_001136242.1:n.*219G>A
NM_001354411.1:c.4783G>A	NP_001341340.1:p.Glu1595Lys
NM_001354420.1:c.4476+1295G>A	NP_001341349.1:n.4476+1295G>A
NM_001354429.1:c.4605+1295G>A	NP_001341358.1:n.4605+1295G>A
XM_017016573.2:c.4783G>A	XP_016872062.1:p.Glu1595Lys
XR_001747192.2:n.10963+1295G>A
XR_001747193.2:n.10954+1295G>A
NM_001142769.3:c.4804G>A	NP_001136241.1:p.Glu1602Lys
NM_001142770.3:c.*219G>A	NP_001136242.1:n.*219G>A
NM_001142771.2:c.4497+1295G>A	NP_001136243.1:n.4497+1295G>A
NM_001142772.2:c.4482+1295G>A	NP_001136244.1:n.4482+1295G>A
NM_001354411.2:c.4783G>A	NP_001341340.1:p.Glu1595Lys
NM_001354420.2:c.4476+1295G>A	NP_001341349.1:n.4476+1295G>A
NM_001354429.2:c.4605+1295G>A	NP_001341358.1:n.4605+1295G>A
NM_001384140.1:c.4671+1295G>A MANE Select	NP_001371069.1:n.4671+1295G>A