Canonical Allele Identifier: CA376514788

Gene: PCDH15

Linked Data

• dbSNP Id: rs2133059955
• MyVariant Identifiers: chr10:g.55892636T>A (hg19) ; chr10:g.54132876T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.54132876T>A , CM000672.2:g.54132876T>A	GRCh38
NC_000010.10:g.55892636T>A , CM000672.1:g.55892636T>A	GRCh37
NC_000010.9:g.55562642T>A	NCBI36
NG_009191.2:g.673416A>T
NG_009191.3:g.1501307A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.1952A>T	ENSP00000482794.1:p.Gln651Leu
ENST00000320301.11:c.1916A>T MANE Plus Clinical	ENSP00000322604.6:p.Gln639Leu
ENST00000395445.6:c.1937A>T	ENSP00000378832.2:p.Gln646Leu
ENST00000613657.5:c.1952A>T	ENSP00000482794.1:p.Gln651Leu
ENST00000642496.1:c.775A>T
ENST00000644397.2:c.1916A>T MANE Select	ENSP00000495195.1:p.Gln639Leu
ENST00000320301.10:c.1916A>T	ENSP00000322604.6:p.Gln639Leu
ENST00000361849.7:c.1916A>T	ENSP00000354950.3:p.Gln639Leu
ENST00000373955.5:c.1916A>T	ENSP00000363066.1:p.Gln639Leu
ENST00000373956.7:c.1916A>T	ENSP00000363067.4:p.Gln639Leu
ENST00000373957.7:c.1931A>T	ENSP00000363068.4:p.Gln644Leu
ENST00000373965.6:c.1916A>T	ENSP00000363076.3:p.Gln639Leu
ENST00000395430.5:c.1916A>T	ENSP00000378818.1:p.Gln639Leu
ENST00000395432.6:c.1805A>T	ENSP00000378820.2:p.Gln602Leu
ENST00000395433.5:c.1850A>T	ENSP00000378821.1:p.Gln617Leu
ENST00000395438.5:c.1916A>T	ENSP00000378826.2:p.Gln639Leu
ENST00000395440.5:c.1305+62807A>T	ENSP00000378827.1:n.1305+62807A>T
ENST00000395442.5:c.1098+81060A>T	ENSP00000378829.1:n.1098+81060A>T
ENST00000395445.5:c.1937A>T	ENSP00000378832.2:p.Gln646Leu
ENST00000395446.5:c.1916A>T	ENSP00000378833.1:p.Gln639Leu
ENST00000409834.5:c.749A>T	ENSP00000386693.1:p.Gln250Leu
ENST00000414367.5:c.876+184395A>T	ENSP00000412531.1:n.876+184395A>T
ENST00000414778.5:c.1916A>T	ENSP00000410304.2:p.Gln639Leu
ENST00000437009.5:c.1784+20224A>T	ENSP00000412628.2:n.1784+20224A>T
ENST00000448885.5:c.1916A>T	ENSP00000412320.1:p.Gln639Leu
ENST00000495484.5:c.-24-275613A>T	ENSP00000480780.1:n.-24-275613A>T
ENST00000612394.4:c.1952A>T	ENSP00000482921.1:p.Gln651Leu
ENST00000613657.4:c.1952A>T	ENSP00000482794.1:p.Gln651Leu
ENST00000614895.4:c.1931A>T	ENSP00000478512.1:p.Gln644Leu
ENST00000616114.4:c.1916A>T	ENSP00000483745.1:p.Gln639Leu
ENST00000617051.4:c.1931A>T	ENSP00000484703.1:p.Gln644Leu
ENST00000617271.4:c.1916A>T	ENSP00000478076.1:p.Gln639Leu
ENST00000621708.4:c.1931A>T	ENSP00000484454.1:p.Gln644Leu
ENST00000622048.4:c.1784+20224A>T	ENSP00000482329.1:n.1784+20224A>T
NM_001142763.1:c.1931A>T	NP_001136235.1:p.Gln644Leu
NM_001142764.1:c.1916A>T	NP_001136236.1:p.Gln639Leu
NM_001142765.1:c.1784+20224A>T	NP_001136237.1:n.1784+20224A>T
NM_001142766.1:c.1916A>T	NP_001136238.1:p.Gln639Leu
NM_001142767.1:c.1805A>T	NP_001136239.1:p.Gln602Leu
NM_001142768.1:c.1850A>T	NP_001136240.1:p.Gln617Leu
NM_001142769.1:c.1952A>T	NP_001136241.1:p.Gln651Leu
NM_001142770.1:c.1916A>T	NP_001136242.1:p.Gln639Leu
NM_001142771.1:c.1931A>T	NP_001136243.1:p.Gln644Leu
NM_001142772.1:c.1916A>T	NP_001136244.1:p.Gln639Leu
NM_001142773.1:c.1850A>T	NP_001136245.1:p.Gln617Leu
NM_033056.3:c.1916A>T	NP_149045.3:p.Gln639Leu
NM_001142769.2:c.1952A>T	NP_001136241.1:p.Gln651Leu
NM_001142770.2:c.1916A>T	NP_001136242.1:p.Gln639Leu
NM_001354404.1:c.1850A>T	NP_001341333.1:p.Gln617Leu
NM_001354411.1:c.1937A>T	NP_001341340.1:p.Gln646Leu
NM_001354420.1:c.1916A>T	NP_001341349.1:p.Gln639Leu
NM_001354429.1:c.1916A>T	NP_001341358.1:p.Gln639Leu
NM_001354430.1:c.1916A>T	NP_001341359.1:p.Gln639Leu
XM_017016573.2:c.1931A>T	XP_016872062.1:p.Gln644Leu
XR_001747192.2:n.2929A>T
XR_001747193.2:n.2929A>T
NM_001142763.2:c.1931A>T	NP_001136235.1:p.Gln644Leu
NM_001142764.2:c.1916A>T	NP_001136236.1:p.Gln639Leu
NM_001142765.2:c.1784+20224A>T	NP_001136237.1:n.1784+20224A>T
NM_001142766.2:c.1916A>T	NP_001136238.1:p.Gln639Leu
NM_001142768.2:c.1850A>T	NP_001136240.1:p.Gln617Leu
NM_001142769.3:c.1952A>T	NP_001136241.1:p.Gln651Leu
NM_001142770.3:c.1916A>T	NP_001136242.1:p.Gln639Leu
NM_001142771.2:c.1931A>T	NP_001136243.1:p.Gln644Leu
NM_001142772.2:c.1916A>T	NP_001136244.1:p.Gln639Leu
NM_001142773.2:c.1850A>T	NP_001136245.1:p.Gln617Leu
NM_001354411.2:c.1937A>T	NP_001341340.1:p.Gln646Leu
NM_001354420.2:c.1916A>T	NP_001341349.1:p.Gln639Leu
NM_001354429.2:c.1916A>T	NP_001341358.1:p.Gln639Leu
NM_001354430.2:c.1916A>T	NP_001341359.1:p.Gln639Leu
NM_033056.4:c.1916A>T MANE Plus Clinical	NP_149045.3:p.Gln639Leu
NM_001142767.2:c.1805A>T	NP_001136239.1:p.Gln602Leu
NM_001354404.2:c.1850A>T	NP_001341333.1:p.Gln617Leu
NM_001384140.1:c.1916A>T MANE Select	NP_001371069.1:p.Gln639Leu