Canonical Allele Identifier: CA376527302

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53823277-C-A
• COSMIC: COSM5689981 ; COSM5689982
• MyVariant Identifiers: chr10:g.55583037C>A (hg19) ; chr10:g.53823277C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53823277C>A , CM000672.2:g.53823277C>A	GRCh38
NC_000010.10:g.55583037C>A , CM000672.1:g.55583037C>A	GRCh37
NC_000010.9:g.55253043C>A	NCBI36
NG_009191.2:g.983015G>T
NG_009191.3:g.1810906G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+1859G>T	ENSP00000482794.1:n.4409+1859G>T
ENST00000320301.11:c.4449G>T MANE Plus Clinical	ENSP00000322604.6:p.Met1483Ile
ENST00000395445.6:c.4388+4116G>T	ENSP00000378832.2:n.4388+4116G>T
ENST00000613657.5:c.4409+1859G>T	ENSP00000482794.1:n.4409+1859G>T
ENST00000642496.1:c.3227-3047G>T
ENST00000644397.2:c.4368-3047G>T MANE Select	ENSP00000495195.1:n.4368-3047G>T
ENST00000320301.10:c.4449G>T	ENSP00000322604.6:p.Met1483Ile
ENST00000361849.7:c.4455G>T	ENSP00000354950.3:p.Met1485Ile
ENST00000373956.7:c.*2404G>T	ENSP00000363067.4:n.*2404G>T
ENST00000373957.7:c.4470G>T	ENSP00000363068.4:p.Met1490Ile
ENST00000373965.6:c.4373+1859G>T	ENSP00000363076.3:n.4373+1859G>T
ENST00000395430.5:c.4440G>T	ENSP00000378818.1:p.Met1480Ile
ENST00000395432.6:c.4329G>T	ENSP00000378820.2:p.Met1443Ile
ENST00000395433.5:c.4380G>T	ENSP00000378821.1:p.Met1460Ile
ENST00000395438.5:c.4371+4115G>T	ENSP00000378826.2:n.4371+4115G>T
ENST00000395440.5:c.1306-13731G>T	ENSP00000378827.1:n.1306-13731G>T
ENST00000395442.5:c.1099-13731G>T	ENSP00000378829.1:n.1099-13731G>T
ENST00000395445.5:c.4388+4116G>T	ENSP00000378832.2:n.4388+4116G>T
ENST00000395446.5:c.2092-13731G>T	ENSP00000378833.1:n.2092-13731G>T
ENST00000409834.5:c.3206+1859G>T	ENSP00000386693.1:n.3206+1859G>T
ENST00000414367.5:c.*447+4116G>T	ENSP00000412531.1:n.*447+4116G>T
ENST00000414778.5:c.4370+4116G>T	ENSP00000410304.2:n.4370+4116G>T
ENST00000437009.5:c.4242G>T	ENSP00000412628.2:p.Met1414Ile
ENST00000448885.5:c.*2410G>T	ENSP00000412320.1:n.*2410G>T
ENST00000463095.2:n.1468G>T
ENST00000495484.5:c.462-5264G>T	ENSP00000480780.1:n.462-5264G>T
ENST00000612394.4:c.4406+4116G>T	ENSP00000482921.1:n.4406+4116G>T
ENST00000613657.4:c.4409+1859G>T	ENSP00000482794.1:n.4409+1859G>T
ENST00000614895.4:c.4385+4116G>T	ENSP00000478512.1:n.4385+4116G>T
ENST00000616114.4:c.4367+4116G>T	ENSP00000483745.1:n.4367+4116G>T
ENST00000617051.4:c.4476G>T	ENSP00000484703.1:p.Met1492Ile
ENST00000617271.4:c.4373+1859G>T	ENSP00000478076.1:n.4373+1859G>T
ENST00000618301.4:c.593+4116G>T	ENSP00000482780.1:n.593+4116G>T
ENST00000621708.4:c.4388+1859G>T	ENSP00000484454.1:n.4388+1859G>T
ENST00000622048.4:c.4248G>T	ENSP00000482329.1:p.Met1416Ile
NM_001142763.1:c.4470G>T	NP_001136235.1:p.Met1490Ile
NM_001142764.1:c.4455G>T	NP_001136236.1:p.Met1485Ile
NM_001142765.1:c.4242G>T	NP_001136237.1:p.Met1414Ile
NM_001142766.1:c.4440G>T	NP_001136238.1:p.Met1480Ile
NM_001142767.1:c.4329G>T	NP_001136239.1:p.Met1443Ile
NM_001142768.1:c.4389G>T	NP_001136240.1:p.Met1463Ile
NM_001142769.1:c.4409+1859G>T	NP_001136241.1:n.4409+1859G>T
NM_001142770.1:c.4373+1859G>T	NP_001136242.1:n.4373+1859G>T
NM_001142771.1:c.4388+1859G>T	NP_001136243.1:n.4388+1859G>T
NM_001142772.1:c.4373+1859G>T	NP_001136244.1:n.4373+1859G>T
NM_001142773.1:c.4380G>T	NP_001136245.1:p.Met1460Ile
NM_033056.3:c.4449G>T	NP_149045.3:p.Met1483Ile
NM_001142769.2:c.4409+1859G>T	NP_001136241.1:n.4409+1859G>T
NM_001142770.2:c.4373+1859G>T	NP_001136242.1:n.4373+1859G>T
NM_001354404.1:c.4383G>T	NP_001341333.1:p.Met1461Ile
NM_001354411.1:c.4388+4116G>T	NP_001341340.1:n.4388+4116G>T
NM_001354420.1:c.4367+4116G>T	NP_001341349.1:n.4367+4116G>T
NM_001354429.1:c.4367+4116G>T	NP_001341358.1:n.4367+4116G>T
XM_017016573.2:c.4388+1859G>T	XP_016872062.1:n.4388+1859G>T
XR_001747192.2:n.5462G>T
XR_001747193.2:n.5453G>T
NM_001142763.2:c.4470G>T	NP_001136235.1:p.Met1490Ile
NM_001142764.2:c.4455G>T	NP_001136236.1:p.Met1485Ile
NM_001142765.2:c.4242G>T	NP_001136237.1:p.Met1414Ile
NM_001142766.2:c.4440G>T	NP_001136238.1:p.Met1480Ile
NM_001142768.2:c.4389G>T	NP_001136240.1:p.Met1463Ile
NM_001142769.3:c.4409+1859G>T	NP_001136241.1:n.4409+1859G>T
NM_001142770.3:c.4373+1859G>T	NP_001136242.1:n.4373+1859G>T
NM_001142771.2:c.4388+1859G>T	NP_001136243.1:n.4388+1859G>T
NM_001142772.2:c.4373+1859G>T	NP_001136244.1:n.4373+1859G>T
NM_001142773.2:c.4380G>T	NP_001136245.1:p.Met1460Ile
NM_001354411.2:c.4388+4116G>T	NP_001341340.1:n.4388+4116G>T
NM_001354420.2:c.4367+4116G>T	NP_001341349.1:n.4367+4116G>T
NM_001354429.2:c.4367+4116G>T	NP_001341358.1:n.4367+4116G>T
NM_033056.4:c.4449G>T MANE Plus Clinical	NP_149045.3:p.Met1483Ile
NM_001142767.2:c.4329G>T	NP_001136239.1:p.Met1443Ile
NM_001354404.2:c.4383G>T	NP_001341333.1:p.Met1461Ile
NM_001384140.1:c.4368-3047G>T MANE Select	NP_001371069.1:n.4368-3047G>T