Canonical Allele Identifier: CA376521948

Gene: PCDH15

Linked Data

• gnomAD v4: 10-54020205-G-A
• MyVariant Identifiers: chr10:g.55779965G>A (hg19) ; chr10:g.54020205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.54020205G>A , CM000672.2:g.54020205G>A	GRCh38
NC_000010.10:g.55779965G>A , CM000672.1:g.55779965G>A	GRCh37
NC_000010.9:g.55449971G>A	NCBI36
NG_009191.2:g.786087C>T
NG_009191.3:g.1613978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.2774C>T	ENSP00000482794.1:p.Thr925Ile
ENST00000320301.11:c.2738C>T MANE Plus Clinical	ENSP00000322604.6:p.Thr913Ile
ENST00000395445.6:c.2759C>T	ENSP00000378832.2:p.Thr920Ile
ENST00000613657.5:c.2774C>T	ENSP00000482794.1:p.Thr925Ile
ENST00000642496.1:c.1597C>T
ENST00000644397.2:c.2738C>T MANE Select	ENSP00000495195.1:p.Thr913Ile
ENST00000320301.10:c.2738C>T	ENSP00000322604.6:p.Thr913Ile
ENST00000361849.7:c.2738C>T	ENSP00000354950.3:p.Thr913Ile
ENST00000373955.5:c.2738C>T	ENSP00000363066.1:p.Thr913Ile
ENST00000373956.7:c.*693C>T	ENSP00000363067.4:n.*693C>T
ENST00000373957.7:c.2753C>T	ENSP00000363068.4:p.Thr918Ile
ENST00000373965.6:c.2738C>T	ENSP00000363076.3:p.Thr913Ile
ENST00000395430.5:c.2738C>T	ENSP00000378818.1:p.Thr913Ile
ENST00000395432.6:c.2627C>T	ENSP00000378820.2:p.Thr876Ile
ENST00000395433.5:c.2672C>T	ENSP00000378821.1:p.Thr891Ile
ENST00000395438.5:c.2738C>T	ENSP00000378826.2:p.Thr913Ile
ENST00000395440.5:c.1305+175478C>T	ENSP00000378827.1:n.1305+175478C>T
ENST00000395442.5:c.1098+193731C>T	ENSP00000378829.1:n.1098+193731C>T
ENST00000395445.5:c.2759C>T	ENSP00000378832.2:p.Thr920Ile
ENST00000395446.5:c.2091+59126C>T	ENSP00000378833.1:n.2091+59126C>T
ENST00000409834.5:c.1571C>T	ENSP00000386693.1:p.Thr524Ile
ENST00000414367.5:c.877-179709C>T	ENSP00000412531.1:n.877-179709C>T
ENST00000414778.5:c.2738C>T	ENSP00000410304.2:p.Thr913Ile
ENST00000437009.5:c.2525C>T	ENSP00000412628.2:p.Thr842Ile
ENST00000448885.5:c.*693C>T	ENSP00000412320.1:n.*693C>T
ENST00000495484.5:c.-24-162942C>T	ENSP00000480780.1:n.-24-162942C>T
ENST00000612394.4:c.2774C>T	ENSP00000482921.1:p.Thr925Ile
ENST00000613657.4:c.2774C>T	ENSP00000482794.1:p.Thr925Ile
ENST00000614895.4:c.2753C>T	ENSP00000478512.1:p.Thr918Ile
ENST00000616114.4:c.2738C>T	ENSP00000483745.1:p.Thr913Ile
ENST00000617051.4:c.2753C>T	ENSP00000484703.1:p.Thr918Ile
ENST00000617271.4:c.2738C>T	ENSP00000478076.1:p.Thr913Ile
ENST00000621708.4:c.2753C>T	ENSP00000484454.1:p.Thr918Ile
ENST00000622048.4:c.2525C>T	ENSP00000482329.1:p.Thr842Ile
NM_001142763.1:c.2753C>T	NP_001136235.1:p.Thr918Ile
NM_001142764.1:c.2738C>T	NP_001136236.1:p.Thr913Ile
NM_001142765.1:c.2525C>T	NP_001136237.1:p.Thr842Ile
NM_001142766.1:c.2738C>T	NP_001136238.1:p.Thr913Ile
NM_001142767.1:c.2627C>T	NP_001136239.1:p.Thr876Ile
NM_001142768.1:c.2672C>T	NP_001136240.1:p.Thr891Ile
NM_001142769.1:c.2774C>T	NP_001136241.1:p.Thr925Ile
NM_001142770.1:c.2738C>T	NP_001136242.1:p.Thr913Ile
NM_001142771.1:c.2753C>T	NP_001136243.1:p.Thr918Ile
NM_001142772.1:c.2738C>T	NP_001136244.1:p.Thr913Ile
NM_001142773.1:c.2672C>T	NP_001136245.1:p.Thr891Ile
NM_033056.3:c.2738C>T	NP_149045.3:p.Thr913Ile
NM_001142769.2:c.2774C>T	NP_001136241.1:p.Thr925Ile
NM_001142770.2:c.2738C>T	NP_001136242.1:p.Thr913Ile
NM_001354404.1:c.2672C>T	NP_001341333.1:p.Thr891Ile
NM_001354411.1:c.2759C>T	NP_001341340.1:p.Thr920Ile
NM_001354420.1:c.2738C>T	NP_001341349.1:p.Thr913Ile
NM_001354429.1:c.2738C>T	NP_001341358.1:p.Thr913Ile
NM_001354430.1:c.2738C>T	NP_001341359.1:p.Thr913Ile
XM_017016573.2:c.2753C>T	XP_016872062.1:p.Thr918Ile
XR_001747192.2:n.3751C>T
XR_001747193.2:n.3751C>T
NM_001142763.2:c.2753C>T	NP_001136235.1:p.Thr918Ile
NM_001142764.2:c.2738C>T	NP_001136236.1:p.Thr913Ile
NM_001142765.2:c.2525C>T	NP_001136237.1:p.Thr842Ile
NM_001142766.2:c.2738C>T	NP_001136238.1:p.Thr913Ile
NM_001142768.2:c.2672C>T	NP_001136240.1:p.Thr891Ile
NM_001142769.3:c.2774C>T	NP_001136241.1:p.Thr925Ile
NM_001142770.3:c.2738C>T	NP_001136242.1:p.Thr913Ile
NM_001142771.2:c.2753C>T	NP_001136243.1:p.Thr918Ile
NM_001142772.2:c.2738C>T	NP_001136244.1:p.Thr913Ile
NM_001142773.2:c.2672C>T	NP_001136245.1:p.Thr891Ile
NM_001354411.2:c.2759C>T	NP_001341340.1:p.Thr920Ile
NM_001354420.2:c.2738C>T	NP_001341349.1:p.Thr913Ile
NM_001354429.2:c.2738C>T	NP_001341358.1:p.Thr913Ile
NM_001354430.2:c.2738C>T	NP_001341359.1:p.Thr913Ile
NM_033056.4:c.2738C>T MANE Plus Clinical	NP_149045.3:p.Thr913Ile
NM_001142767.2:c.2627C>T	NP_001136239.1:p.Thr876Ile
NM_001354404.2:c.2672C>T	NP_001341333.1:p.Thr891Ile
NM_001384140.1:c.2738C>T MANE Select	NP_001371069.1:p.Thr913Ile