Canonical Allele Identifier: CA5504682

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 227000
• ClinVar RCV Id: RCV002485378
• dbSNP Id: rs145178582
• ExAC: 10:55568530 T / C
• gnomAD v2: 10-55568530-T-C
• gnomAD v3: 10-53808770-T-C
• gnomAD v4: 10-53808770-T-C
• MyVariant Identifiers: chr10:g.55568530T>C (hg19) ; chr10:g.53808770T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53808770T>C , CM000672.2:g.53808770T>C	GRCh38
NC_000010.10:g.55568530T>C , CM000672.1:g.55568530T>C	GRCh37
NC_000010.9:g.55238536T>C	NCBI36
NG_009191.2:g.997522A>G
NG_009191.3:g.1825413A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000613657.6:c.5295A>G	ENSP00000482794.1:p.Pro1765=
ENST00000395445.6:c.5274A>G	ENSP00000378832.2:p.Pro1758=
ENST00000613657.5:c.5295A>G	ENSP00000482794.1:p.Pro1765=
ENST00000642496.1:c.3531-1640A>G
ENST00000644397.2:c.4672-1640A>G MANE Select	ENSP00000495195.1:n.4672-1640A>G
ENST00000373965.6:c.4483-1640A>G	ENSP00000363076.3:n.4483-1640A>G
ENST00000395438.5:c.*710A>G	ENSP00000378826.2:n.*710A>G
ENST00000395440.5:c.2082A>G	ENSP00000378827.1:p.Pro694=
ENST00000395442.5:c.1875A>G	ENSP00000378829.1:p.Pro625=
ENST00000395445.5:c.5274A>G	ENSP00000378832.2:p.Pro1758=
ENST00000395446.5:c.2868A>G	ENSP00000378833.1:p.Pro956=
ENST00000409834.5:c.*710A>G	ENSP00000386693.1:n.*710A>G
ENST00000414367.5:c.*1333A>G	ENSP00000412531.1:n.*1333A>G
ENST00000414778.5:c.4480-1640A>G	ENSP00000410304.2:n.4480-1640A>G
ENST00000476074.5:n.610-1640A>G
ENST00000495484.5:c.700-1640A>G	ENSP00000480780.1:n.700-1640A>G
ENST00000612394.4:c.5292A>G	ENSP00000482921.1:p.Pro1764=
ENST00000613657.4:c.5295A>G	ENSP00000482794.1:p.Pro1765=
ENST00000614895.4:c.4495-1640A>G	ENSP00000478512.1:n.4495-1640A>G
ENST00000615043.1:c.895A>G
ENST00000616114.4:c.4477-1640A>G	ENSP00000483745.1:n.4477-1640A>G
ENST00000617271.4:c.*710A>G	ENSP00000478076.1:n.*710A>G
ENST00000618301.4:c.832-1640A>G	ENSP00000482780.1:n.832-1640A>G
ENST00000621708.4:c.4498-1640A>G	ENSP00000484454.1:n.4498-1640A>G
NM_001142769.1:c.5295A>G	NP_001136241.1:p.Pro1765=
NM_001142770.1:c.*710A>G	NP_001136242.1:n.*710A>G
NM_001142771.1:c.4498-1640A>G	NP_001136243.1:n.4498-1640A>G
NM_001142772.1:c.4483-1640A>G	NP_001136244.1:n.4483-1640A>G
NM_001142769.2:c.5295A>G	NP_001136241.1:p.Pro1765=
NM_001142770.2:c.*710A>G	NP_001136242.1:n.*710A>G
NM_001354411.1:c.5274A>G	NP_001341340.1:p.Pro1758=
NM_001354420.1:c.4477-1640A>G	NP_001341349.1:n.4477-1640A>G
NM_001354429.1:c.4606-1640A>G	NP_001341358.1:n.4606-1640A>G
XM_017016573.2:c.5274A>G	XP_016872062.1:p.Pro1758=
XR_001747192.2:n.10964-1640A>G
XR_001747193.2:n.10955-1640A>G
NM_001142769.3:c.5295A>G	NP_001136241.1:p.Pro1765=
NM_001142770.3:c.*710A>G	NP_001136242.1:n.*710A>G
NM_001142771.2:c.4498-1640A>G	NP_001136243.1:n.4498-1640A>G
NM_001142772.2:c.4483-1640A>G	NP_001136244.1:n.4483-1640A>G
NM_001354411.2:c.5274A>G	NP_001341340.1:p.Pro1758=
NM_001354420.2:c.4477-1640A>G	NP_001341349.1:n.4477-1640A>G
NM_001354429.2:c.4606-1640A>G	NP_001341358.1:n.4606-1640A>G
NM_001384140.1:c.4672-1640A>G MANE Select	NP_001371069.1:n.4672-1640A>G