Canonical Allele Identifier: CA376520308

Gene: PCDH15

Linked Data

• gnomAD v3: 10-53809249-C-G
• gnomAD v4: 10-53809249-C-G
• MyVariant Identifiers: chr10:g.55569009C>G (hg19) ; chr10:g.53809249C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809249C>G , CM000672.2:g.53809249C>G	GRCh38
NC_000010.10:g.55569009C>G , CM000672.1:g.55569009C>G	GRCh37
NC_000010.9:g.55239015C>G	NCBI36
NG_009191.2:g.997043G>C
NG_009191.3:g.1824934G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.4816G>C	ENSP00000482794.1:p.Glu1606Gln
ENST00000395445.6:c.4795G>C	ENSP00000378832.2:p.Glu1599Gln
ENST00000613657.5:c.4816G>C	ENSP00000482794.1:p.Glu1606Gln
ENST00000642496.1:c.3530+1307G>C
ENST00000644397.2:c.4671+1307G>C MANE Select	ENSP00000495195.1:n.4671+1307G>C
ENST00000373965.6:c.4482+1307G>C	ENSP00000363076.3:n.4482+1307G>C
ENST00000395438.5:c.*231G>C	ENSP00000378826.2:n.*231G>C
ENST00000395440.5:c.1603G>C	ENSP00000378827.1:p.Glu535Gln
ENST00000395442.5:c.1396G>C	ENSP00000378829.1:p.Glu466Gln
ENST00000395445.5:c.4795G>C	ENSP00000378832.2:p.Glu1599Gln
ENST00000395446.5:c.2389G>C	ENSP00000378833.1:p.Glu797Gln
ENST00000409834.5:c.*231G>C	ENSP00000386693.1:n.*231G>C
ENST00000414367.5:c.*854G>C	ENSP00000412531.1:n.*854G>C
ENST00000414778.5:c.4479+1307G>C	ENSP00000410304.2:n.4479+1307G>C
ENST00000476074.5:n.609+1307G>C
ENST00000495484.5:c.699+1307G>C	ENSP00000480780.1:n.699+1307G>C
ENST00000612394.4:c.4813G>C	ENSP00000482921.1:p.Glu1605Gln
ENST00000613657.4:c.4816G>C	ENSP00000482794.1:p.Glu1606Gln
ENST00000614895.4:c.4494+1307G>C	ENSP00000478512.1:n.4494+1307G>C
ENST00000615043.1:c.416G>C
ENST00000616114.4:c.4476+1307G>C	ENSP00000483745.1:n.4476+1307G>C
ENST00000617271.4:c.*231G>C	ENSP00000478076.1:n.*231G>C
ENST00000618301.4:c.831+1307G>C	ENSP00000482780.1:n.831+1307G>C
ENST00000621708.4:c.4497+1307G>C	ENSP00000484454.1:n.4497+1307G>C
NM_001142769.1:c.4816G>C	NP_001136241.1:p.Glu1606Gln
NM_001142770.1:c.*231G>C	NP_001136242.1:n.*231G>C
NM_001142771.1:c.4497+1307G>C	NP_001136243.1:n.4497+1307G>C
NM_001142772.1:c.4482+1307G>C	NP_001136244.1:n.4482+1307G>C
NM_001142769.2:c.4816G>C	NP_001136241.1:p.Glu1606Gln
NM_001142770.2:c.*231G>C	NP_001136242.1:n.*231G>C
NM_001354411.1:c.4795G>C	NP_001341340.1:p.Glu1599Gln
NM_001354420.1:c.4476+1307G>C	NP_001341349.1:n.4476+1307G>C
NM_001354429.1:c.4605+1307G>C	NP_001341358.1:n.4605+1307G>C
XM_017016573.2:c.4795G>C	XP_016872062.1:p.Glu1599Gln
XR_001747192.2:n.10963+1307G>C
XR_001747193.2:n.10954+1307G>C
NM_001142769.3:c.4816G>C	NP_001136241.1:p.Glu1606Gln
NM_001142770.3:c.*231G>C	NP_001136242.1:n.*231G>C
NM_001142771.2:c.4497+1307G>C	NP_001136243.1:n.4497+1307G>C
NM_001142772.2:c.4482+1307G>C	NP_001136244.1:n.4482+1307G>C
NM_001354411.2:c.4795G>C	NP_001341340.1:p.Glu1599Gln
NM_001354420.2:c.4476+1307G>C	NP_001341349.1:n.4476+1307G>C
NM_001354429.2:c.4605+1307G>C	NP_001341358.1:n.4605+1307G>C
NM_001384140.1:c.4671+1307G>C MANE Select	NP_001371069.1:n.4671+1307G>C