Canonical Allele Identifier: CA376520517

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53809343-C-A
• MyVariant Identifiers: chr10:g.55569103C>A (hg19) ; chr10:g.53809343C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809343C>A , CM000672.2:g.53809343C>A	GRCh38
NC_000010.10:g.55569103C>A , CM000672.1:g.55569103C>A	GRCh37
NC_000010.9:g.55239109C>A	NCBI36
NG_009191.2:g.996949G>T
NG_009191.3:g.1824840G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4722G>T	ENSP00000482794.1:p.Glu1574Asp
ENST00000395445.6:c.4701G>T	ENSP00000378832.2:p.Glu1567Asp
ENST00000613657.5:c.4722G>T	ENSP00000482794.1:p.Glu1574Asp
ENST00000642496.1:c.3530+1213G>T
ENST00000644397.2:c.4671+1213G>T MANE Select	ENSP00000495195.1:n.4671+1213G>T
ENST00000373965.6:c.4482+1213G>T	ENSP00000363076.3:n.4482+1213G>T
ENST00000395438.5:c.*137G>T	ENSP00000378826.2:n.*137G>T
ENST00000395440.5:c.1509G>T	ENSP00000378827.1:p.Glu503Asp
ENST00000395442.5:c.1302G>T	ENSP00000378829.1:p.Glu434Asp
ENST00000395445.5:c.4701G>T	ENSP00000378832.2:p.Glu1567Asp
ENST00000395446.5:c.2295G>T	ENSP00000378833.1:p.Glu765Asp
ENST00000409834.5:c.*137G>T	ENSP00000386693.1:n.*137G>T
ENST00000414367.5:c.*760G>T	ENSP00000412531.1:n.*760G>T
ENST00000414778.5:c.4479+1213G>T	ENSP00000410304.2:n.4479+1213G>T
ENST00000476074.5:n.609+1213G>T
ENST00000495484.5:c.699+1213G>T	ENSP00000480780.1:n.699+1213G>T
ENST00000612394.4:c.4719G>T	ENSP00000482921.1:p.Glu1573Asp
ENST00000613657.4:c.4722G>T	ENSP00000482794.1:p.Glu1574Asp
ENST00000614895.4:c.4494+1213G>T	ENSP00000478512.1:n.4494+1213G>T
ENST00000615043.1:c.322G>T
ENST00000616114.4:c.4476+1213G>T	ENSP00000483745.1:n.4476+1213G>T
ENST00000617271.4:c.*137G>T	ENSP00000478076.1:n.*137G>T
ENST00000618301.4:c.831+1213G>T	ENSP00000482780.1:n.831+1213G>T
ENST00000621708.4:c.4497+1213G>T	ENSP00000484454.1:n.4497+1213G>T
NM_001142769.1:c.4722G>T	NP_001136241.1:p.Glu1574Asp
NM_001142770.1:c.*137G>T	NP_001136242.1:n.*137G>T
NM_001142771.1:c.4497+1213G>T	NP_001136243.1:n.4497+1213G>T
NM_001142772.1:c.4482+1213G>T	NP_001136244.1:n.4482+1213G>T
NM_001142769.2:c.4722G>T	NP_001136241.1:p.Glu1574Asp
NM_001142770.2:c.*137G>T	NP_001136242.1:n.*137G>T
NM_001354411.1:c.4701G>T	NP_001341340.1:p.Glu1567Asp
NM_001354420.1:c.4476+1213G>T	NP_001341349.1:n.4476+1213G>T
NM_001354429.1:c.4605+1213G>T	NP_001341358.1:n.4605+1213G>T
XM_017016573.2:c.4701G>T	XP_016872062.1:p.Glu1567Asp
XR_001747192.2:n.10963+1213G>T
XR_001747193.2:n.10954+1213G>T
NM_001142769.3:c.4722G>T	NP_001136241.1:p.Glu1574Asp
NM_001142770.3:c.*137G>T	NP_001136242.1:n.*137G>T
NM_001142771.2:c.4497+1213G>T	NP_001136243.1:n.4497+1213G>T
NM_001142772.2:c.4482+1213G>T	NP_001136244.1:n.4482+1213G>T
NM_001354411.2:c.4701G>T	NP_001341340.1:p.Glu1567Asp
NM_001354420.2:c.4476+1213G>T	NP_001341349.1:n.4476+1213G>T
NM_001354429.2:c.4605+1213G>T	NP_001341358.1:n.4605+1213G>T
NM_001384140.1:c.4671+1213G>T MANE Select	NP_001371069.1:n.4671+1213G>T