Canonical Allele Identifier: CA376514824

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55892652C>G (hg19) ; chr10:g.54132892C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.54132892C>G , CM000672.2:g.54132892C>G	GRCh38
NC_000010.10:g.55892652C>G , CM000672.1:g.55892652C>G	GRCh37
NC_000010.9:g.55562658C>G	NCBI36
NG_009191.2:g.673400G>C
NG_009191.3:g.1501291G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.1936G>C	ENSP00000482794.1:p.Val646Leu
ENST00000320301.11:c.1900G>C MANE Plus Clinical	ENSP00000322604.6:p.Val634Leu
ENST00000395445.6:c.1921G>C	ENSP00000378832.2:p.Val641Leu
ENST00000613657.5:c.1936G>C	ENSP00000482794.1:p.Val646Leu
ENST00000642496.1:c.759G>C
ENST00000644397.2:c.1900G>C MANE Select	ENSP00000495195.1:p.Val634Leu
ENST00000320301.10:c.1900G>C	ENSP00000322604.6:p.Val634Leu
ENST00000361849.7:c.1900G>C	ENSP00000354950.3:p.Val634Leu
ENST00000373955.5:c.1900G>C	ENSP00000363066.1:p.Val634Leu
ENST00000373956.7:c.1900G>C	ENSP00000363067.4:p.Val634Leu
ENST00000373957.7:c.1915G>C	ENSP00000363068.4:p.Val639Leu
ENST00000373965.6:c.1900G>C	ENSP00000363076.3:p.Val634Leu
ENST00000395430.5:c.1900G>C	ENSP00000378818.1:p.Val634Leu
ENST00000395432.6:c.1789G>C	ENSP00000378820.2:p.Val597Leu
ENST00000395433.5:c.1834G>C	ENSP00000378821.1:p.Val612Leu
ENST00000395438.5:c.1900G>C	ENSP00000378826.2:p.Val634Leu
ENST00000395440.5:c.1305+62791G>C	ENSP00000378827.1:n.1305+62791G>C
ENST00000395442.5:c.1098+81044G>C	ENSP00000378829.1:n.1098+81044G>C
ENST00000395445.5:c.1921G>C	ENSP00000378832.2:p.Val641Leu
ENST00000395446.5:c.1900G>C	ENSP00000378833.1:p.Val634Leu
ENST00000409834.5:c.733G>C	ENSP00000386693.1:p.Val245Leu
ENST00000414367.5:c.876+184379G>C	ENSP00000412531.1:n.876+184379G>C
ENST00000414778.5:c.1900G>C	ENSP00000410304.2:p.Val634Leu
ENST00000437009.5:c.1784+20208G>C	ENSP00000412628.2:n.1784+20208G>C
ENST00000448885.5:c.1900G>C	ENSP00000412320.1:p.Val634Leu
ENST00000495484.5:c.-24-275629G>C	ENSP00000480780.1:n.-24-275629G>C
ENST00000612394.4:c.1936G>C	ENSP00000482921.1:p.Val646Leu
ENST00000613657.4:c.1936G>C	ENSP00000482794.1:p.Val646Leu
ENST00000614895.4:c.1915G>C	ENSP00000478512.1:p.Val639Leu
ENST00000616114.4:c.1900G>C	ENSP00000483745.1:p.Val634Leu
ENST00000617051.4:c.1915G>C	ENSP00000484703.1:p.Val639Leu
ENST00000617271.4:c.1900G>C	ENSP00000478076.1:p.Val634Leu
ENST00000621708.4:c.1915G>C	ENSP00000484454.1:p.Val639Leu
ENST00000622048.4:c.1784+20208G>C	ENSP00000482329.1:n.1784+20208G>C
NM_001142763.1:c.1915G>C	NP_001136235.1:p.Val639Leu
NM_001142764.1:c.1900G>C	NP_001136236.1:p.Val634Leu
NM_001142765.1:c.1784+20208G>C	NP_001136237.1:n.1784+20208G>C
NM_001142766.1:c.1900G>C	NP_001136238.1:p.Val634Leu
NM_001142767.1:c.1789G>C	NP_001136239.1:p.Val597Leu
NM_001142768.1:c.1834G>C	NP_001136240.1:p.Val612Leu
NM_001142769.1:c.1936G>C	NP_001136241.1:p.Val646Leu
NM_001142770.1:c.1900G>C	NP_001136242.1:p.Val634Leu
NM_001142771.1:c.1915G>C	NP_001136243.1:p.Val639Leu
NM_001142772.1:c.1900G>C	NP_001136244.1:p.Val634Leu
NM_001142773.1:c.1834G>C	NP_001136245.1:p.Val612Leu
NM_033056.3:c.1900G>C	NP_149045.3:p.Val634Leu
NM_001142769.2:c.1936G>C	NP_001136241.1:p.Val646Leu
NM_001142770.2:c.1900G>C	NP_001136242.1:p.Val634Leu
NM_001354404.1:c.1834G>C	NP_001341333.1:p.Val612Leu
NM_001354411.1:c.1921G>C	NP_001341340.1:p.Val641Leu
NM_001354420.1:c.1900G>C	NP_001341349.1:p.Val634Leu
NM_001354429.1:c.1900G>C	NP_001341358.1:p.Val634Leu
NM_001354430.1:c.1900G>C	NP_001341359.1:p.Val634Leu
XM_017016573.2:c.1915G>C	XP_016872062.1:p.Val639Leu
XR_001747192.2:n.2913G>C
XR_001747193.2:n.2913G>C
NM_001142763.2:c.1915G>C	NP_001136235.1:p.Val639Leu
NM_001142764.2:c.1900G>C	NP_001136236.1:p.Val634Leu
NM_001142765.2:c.1784+20208G>C	NP_001136237.1:n.1784+20208G>C
NM_001142766.2:c.1900G>C	NP_001136238.1:p.Val634Leu
NM_001142768.2:c.1834G>C	NP_001136240.1:p.Val612Leu
NM_001142769.3:c.1936G>C	NP_001136241.1:p.Val646Leu
NM_001142770.3:c.1900G>C	NP_001136242.1:p.Val634Leu
NM_001142771.2:c.1915G>C	NP_001136243.1:p.Val639Leu
NM_001142772.2:c.1900G>C	NP_001136244.1:p.Val634Leu
NM_001142773.2:c.1834G>C	NP_001136245.1:p.Val612Leu
NM_001354411.2:c.1921G>C	NP_001341340.1:p.Val641Leu
NM_001354420.2:c.1900G>C	NP_001341349.1:p.Val634Leu
NM_001354429.2:c.1900G>C	NP_001341358.1:p.Val634Leu
NM_001354430.2:c.1900G>C	NP_001341359.1:p.Val634Leu
NM_033056.4:c.1900G>C MANE Plus Clinical	NP_149045.3:p.Val634Leu
NM_001142767.2:c.1789G>C	NP_001136239.1:p.Val597Leu
NM_001354404.2:c.1834G>C	NP_001341333.1:p.Val612Leu
NM_001384140.1:c.1900G>C MANE Select	NP_001371069.1:p.Val634Leu