Canonical Allele Identifier: CA376525062

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53822346-T-A
• MyVariant Identifiers: chr10:g.55582106T>A (hg19) ; chr10:g.53822346T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822346T>A , CM000672.2:g.53822346T>A	GRCh38
NC_000010.10:g.55582106T>A , CM000672.1:g.55582106T>A	GRCh37
NC_000010.9:g.55252112T>A	NCBI36
NG_009191.2:g.983946A>T
NG_009191.3:g.1811837A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2790A>T	ENSP00000482794.1:n.4409+2790A>T
ENST00000320301.11:c.5380A>T MANE Plus Clinical	ENSP00000322604.6:p.Thr1794Ser
ENST00000395445.6:c.4388+5047A>T	ENSP00000378832.2:n.4388+5047A>T
ENST00000613657.5:c.4409+2790A>T	ENSP00000482794.1:n.4409+2790A>T
ENST00000642496.1:c.3227-2116A>T
ENST00000644397.2:c.4368-2116A>T MANE Select	ENSP00000495195.1:n.4368-2116A>T
ENST00000320301.10:c.5380A>T	ENSP00000322604.6:p.Thr1794Ser
ENST00000361849.7:c.5386A>T	ENSP00000354950.3:p.Thr1796Ser
ENST00000373956.7:c.*3335A>T	ENSP00000363067.4:n.*3335A>T
ENST00000373957.7:c.5401A>T	ENSP00000363068.4:p.Thr1801Ser
ENST00000373965.6:c.4373+2790A>T	ENSP00000363076.3:n.4373+2790A>T
ENST00000395430.5:c.5371A>T	ENSP00000378818.1:p.Thr1791Ser
ENST00000395432.6:c.5260A>T	ENSP00000378820.2:p.Thr1754Ser
ENST00000395433.5:c.5311A>T	ENSP00000378821.1:p.Thr1771Ser
ENST00000395438.5:c.4371+5046A>T	ENSP00000378826.2:n.4371+5046A>T
ENST00000395440.5:c.1306-12800A>T	ENSP00000378827.1:n.1306-12800A>T
ENST00000395442.5:c.1099-12800A>T	ENSP00000378829.1:n.1099-12800A>T
ENST00000395445.5:c.4388+5047A>T	ENSP00000378832.2:n.4388+5047A>T
ENST00000395446.5:c.2092-12800A>T	ENSP00000378833.1:n.2092-12800A>T
ENST00000409834.5:c.3206+2790A>T	ENSP00000386693.1:n.3206+2790A>T
ENST00000414367.5:c.*447+5047A>T	ENSP00000412531.1:n.*447+5047A>T
ENST00000414778.5:c.4370+5047A>T	ENSP00000410304.2:n.4370+5047A>T
ENST00000437009.5:c.5173A>T	ENSP00000412628.2:p.Thr1725Ser
ENST00000448885.5:c.*3341A>T	ENSP00000412320.1:n.*3341A>T
ENST00000463095.2:n.2399A>T
ENST00000495484.5:c.462-4333A>T	ENSP00000480780.1:n.462-4333A>T
ENST00000612394.4:c.4406+5047A>T	ENSP00000482921.1:n.4406+5047A>T
ENST00000613657.4:c.4409+2790A>T	ENSP00000482794.1:n.4409+2790A>T
ENST00000614895.4:c.4385+5047A>T	ENSP00000478512.1:n.4385+5047A>T
ENST00000616114.4:c.4367+5047A>T	ENSP00000483745.1:n.4367+5047A>T
ENST00000617051.4:c.5407A>T	ENSP00000484703.1:p.Thr1803Ser
ENST00000617271.4:c.4373+2790A>T	ENSP00000478076.1:n.4373+2790A>T
ENST00000618301.4:c.594-4333A>T	ENSP00000482780.1:n.594-4333A>T
ENST00000621708.4:c.4388+2790A>T	ENSP00000484454.1:n.4388+2790A>T
ENST00000622048.4:c.5179A>T	ENSP00000482329.1:p.Thr1727Ser
NM_001142763.1:c.5401A>T	NP_001136235.1:p.Thr1801Ser
NM_001142764.1:c.5386A>T	NP_001136236.1:p.Thr1796Ser
NM_001142765.1:c.5173A>T	NP_001136237.1:p.Thr1725Ser
NM_001142766.1:c.5371A>T	NP_001136238.1:p.Thr1791Ser
NM_001142767.1:c.5260A>T	NP_001136239.1:p.Thr1754Ser
NM_001142768.1:c.5320A>T	NP_001136240.1:p.Thr1774Ser
NM_001142769.1:c.4409+2790A>T	NP_001136241.1:n.4409+2790A>T
NM_001142770.1:c.4373+2790A>T	NP_001136242.1:n.4373+2790A>T
NM_001142771.1:c.4388+2790A>T	NP_001136243.1:n.4388+2790A>T
NM_001142772.1:c.4373+2790A>T	NP_001136244.1:n.4373+2790A>T
NM_001142773.1:c.5311A>T	NP_001136245.1:p.Thr1771Ser
NM_033056.3:c.5380A>T	NP_149045.3:p.Thr1794Ser
NM_001142769.2:c.4409+2790A>T	NP_001136241.1:n.4409+2790A>T
NM_001142770.2:c.4373+2790A>T	NP_001136242.1:n.4373+2790A>T
NM_001354404.1:c.5314A>T	NP_001341333.1:p.Thr1772Ser
NM_001354411.1:c.4388+5047A>T	NP_001341340.1:n.4388+5047A>T
NM_001354420.1:c.4367+5047A>T	NP_001341349.1:n.4367+5047A>T
NM_001354429.1:c.4368-4333A>T	NP_001341358.1:n.4368-4333A>T
XM_017016573.2:c.4388+2790A>T	XP_016872062.1:n.4388+2790A>T
XR_001747192.2:n.6393A>T
XR_001747193.2:n.6384A>T
NM_001142763.2:c.5401A>T	NP_001136235.1:p.Thr1801Ser
NM_001142764.2:c.5386A>T	NP_001136236.1:p.Thr1796Ser
NM_001142765.2:c.5173A>T	NP_001136237.1:p.Thr1725Ser
NM_001142766.2:c.5371A>T	NP_001136238.1:p.Thr1791Ser
NM_001142768.2:c.5320A>T	NP_001136240.1:p.Thr1774Ser
NM_001142769.3:c.4409+2790A>T	NP_001136241.1:n.4409+2790A>T
NM_001142770.3:c.4373+2790A>T	NP_001136242.1:n.4373+2790A>T
NM_001142771.2:c.4388+2790A>T	NP_001136243.1:n.4388+2790A>T
NM_001142772.2:c.4373+2790A>T	NP_001136244.1:n.4373+2790A>T
NM_001142773.2:c.5311A>T	NP_001136245.1:p.Thr1771Ser
NM_001354411.2:c.4388+5047A>T	NP_001341340.1:n.4388+5047A>T
NM_001354420.2:c.4367+5047A>T	NP_001341349.1:n.4367+5047A>T
NM_001354429.2:c.4368-4333A>T	NP_001341358.1:n.4368-4333A>T
NM_033056.4:c.5380A>T MANE Plus Clinical	NP_149045.3:p.Thr1794Ser
NM_001142767.2:c.5260A>T	NP_001136239.1:p.Thr1754Ser
NM_001354404.2:c.5314A>T	NP_001341333.1:p.Thr1772Ser
NM_001384140.1:c.4368-2116A>T MANE Select	NP_001371069.1:n.4368-2116A>T