Canonical Allele Identifier: CA5506601

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 1128998
• ClinVar RCV Id: RCV001461960
• dbSNP Id: rs767845518
• ExAC: 10:56077181 A / G
• gnomAD v2: 10-56077181-A-G
• gnomAD v4: 10-54317421-A-G
• COSMIC: COSM2147702 ; COSM2147703 ; COSM2147704 ; COSM2147705
• MyVariant Identifiers: chr10:g.56077181A>G (hg19) ; chr10:g.54317421A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.54317421A>G , CM000672.2:g.54317421A>G	GRCh38
NC_000010.10:g.56077181A>G , CM000672.1:g.56077181A>G	GRCh37
NC_000010.9:g.55747187A>G	NCBI36
NG_009191.2:g.488871T>C
NG_009191.3:g.1316762T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.741T>C	ENSP00000482794.1:p.Asn247=
ENST00000320301.11:c.726T>C MANE Plus Clinical	ENSP00000322604.6:p.Asn242=
ENST00000395445.6:c.726T>C	ENSP00000378832.2:p.Asn242=
ENST00000613657.5:c.741T>C	ENSP00000482794.1:p.Asn247=
ENST00000644397.2:c.726T>C MANE Select	ENSP00000495195.1:p.Asn242=
ENST00000320301.10:c.726T>C	ENSP00000322604.6:p.Asn242=
ENST00000361849.7:c.726T>C	ENSP00000354950.3:p.Asn242=
ENST00000373955.5:c.726T>C	ENSP00000363066.1:p.Asn242=
ENST00000373956.7:c.726T>C	ENSP00000363067.4:p.Asn242=
ENST00000373957.7:c.741T>C	ENSP00000363068.4:p.Asn247=
ENST00000373965.6:c.726T>C	ENSP00000363076.3:p.Asn242=
ENST00000395430.5:c.726T>C	ENSP00000378818.1:p.Asn242=
ENST00000395432.6:c.615T>C	ENSP00000378820.2:p.Asn205=
ENST00000395433.5:c.660T>C	ENSP00000378821.1:p.Asn220=
ENST00000395438.5:c.726T>C	ENSP00000378826.2:p.Asn242=
ENST00000395440.5:c.726T>C	ENSP00000378827.1:p.Asn242=
ENST00000395442.5:c.726T>C	ENSP00000378829.1:p.Asn242=
ENST00000395445.5:c.726T>C	ENSP00000378832.2:p.Asn242=
ENST00000395446.5:c.726T>C	ENSP00000378833.1:p.Asn242=
ENST00000409834.5:c.-90-121532T>C	ENSP00000386693.1:n.-90-121532T>C
ENST00000414367.5:c.726T>C	ENSP00000412531.1:p.Asn242=
ENST00000414778.5:c.726T>C	ENSP00000410304.2:p.Asn242=
ENST00000437009.5:c.726T>C	ENSP00000412628.2:p.Asn242=
ENST00000448885.5:c.726T>C	ENSP00000412320.1:p.Asn242=
ENST00000495484.5:c.-24-460158T>C	ENSP00000480780.1:n.-24-460158T>C
ENST00000612394.4:c.741T>C	ENSP00000482921.1:p.Asn247=
ENST00000613657.4:c.741T>C	ENSP00000482794.1:p.Asn247=
ENST00000614895.4:c.741T>C	ENSP00000478512.1:p.Asn247=
ENST00000616114.4:c.726T>C	ENSP00000483745.1:p.Asn242=
ENST00000617051.4:c.741T>C	ENSP00000484703.1:p.Asn247=
ENST00000617271.4:c.726T>C	ENSP00000478076.1:p.Asn242=
ENST00000621708.4:c.741T>C	ENSP00000484454.1:p.Asn247=
ENST00000622048.4:c.726T>C	ENSP00000482329.1:p.Asn242=
NM_001142763.1:c.741T>C	NP_001136235.1:p.Asn247=
NM_001142764.1:c.726T>C	NP_001136236.1:p.Asn242=
NM_001142765.1:c.726T>C	NP_001136237.1:p.Asn242=
NM_001142766.1:c.726T>C	NP_001136238.1:p.Asn242=
NM_001142767.1:c.615T>C	NP_001136239.1:p.Asn205=
NM_001142768.1:c.660T>C	NP_001136240.1:p.Asn220=
NM_001142769.1:c.741T>C	NP_001136241.1:p.Asn247=
NM_001142770.1:c.726T>C	NP_001136242.1:p.Asn242=
NM_001142771.1:c.741T>C	NP_001136243.1:p.Asn247=
NM_001142772.1:c.726T>C	NP_001136244.1:p.Asn242=
NM_001142773.1:c.660T>C	NP_001136245.1:p.Asn220=
NM_033056.3:c.726T>C	NP_149045.3:p.Asn242=
NM_001142769.2:c.741T>C	NP_001136241.1:p.Asn247=
NM_001142770.2:c.726T>C	NP_001136242.1:p.Asn242=
NM_001354404.1:c.660T>C	NP_001341333.1:p.Asn220=
NM_001354411.1:c.726T>C	NP_001341340.1:p.Asn242=
NM_001354420.1:c.726T>C	NP_001341349.1:p.Asn242=
NM_001354429.1:c.726T>C	NP_001341358.1:p.Asn242=
NM_001354430.1:c.726T>C	NP_001341359.1:p.Asn242=
XM_017016573.2:c.741T>C	XP_016872062.1:p.Asn247=
XR_001747192.2:n.1739T>C
XR_001747193.2:n.1739T>C
NM_001142763.2:c.741T>C	NP_001136235.1:p.Asn247=
NM_001142764.2:c.726T>C	NP_001136236.1:p.Asn242=
NM_001142765.2:c.726T>C	NP_001136237.1:p.Asn242=
NM_001142766.2:c.726T>C	NP_001136238.1:p.Asn242=
NM_001142768.2:c.660T>C	NP_001136240.1:p.Asn220=
NM_001142769.3:c.741T>C	NP_001136241.1:p.Asn247=
NM_001142770.3:c.726T>C	NP_001136242.1:p.Asn242=
NM_001142771.2:c.741T>C	NP_001136243.1:p.Asn247=
NM_001142772.2:c.726T>C	NP_001136244.1:p.Asn242=
NM_001142773.2:c.660T>C	NP_001136245.1:p.Asn220=
NM_001354411.2:c.726T>C	NP_001341340.1:p.Asn242=
NM_001354420.2:c.726T>C	NP_001341349.1:p.Asn242=
NM_001354429.2:c.726T>C	NP_001341358.1:p.Asn242=
NM_001354430.2:c.726T>C	NP_001341359.1:p.Asn242=
NM_033056.4:c.726T>C MANE Plus Clinical	NP_149045.3:p.Asn242=
NM_001142767.2:c.615T>C	NP_001136239.1:p.Asn205=
NM_001354404.2:c.660T>C	NP_001341333.1:p.Asn220=
NM_001384140.1:c.726T>C MANE Select	NP_001371069.1:p.Asn242=