Canonical Allele Identifier: CA5504511

Gene: PCDH15

Linked Data

• dbSNP Id: rs748166170
• ExAC: 10:55566457 A / C
• gnomAD v3: 10-53806697-A-C
• gnomAD v4: 10-53806697-A-C
• MyVariant Identifiers: chr10:g.55566457A>C (hg19) ; chr10:g.53806697A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806697A>C , CM000672.2:g.53806697A>C	GRCh38
NC_000010.10:g.55566457A>C , CM000672.1:g.55566457A>C	GRCh37
NC_000010.9:g.55236463A>C	NCBI36
NG_009191.2:g.999595T>G
NG_009191.3:g.1827486T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3964T>G
ENST00000644397.2:c.5105T>G MANE Select	ENSP00000495195.1:p.Ile1702Ser
ENST00000373965.6:c.4916T>G	ENSP00000363076.3:p.Ile1639Ser
ENST00000414778.5:c.4913T>G	ENSP00000410304.2:p.Ile1638Ser
ENST00000495484.5:c.1133T>G	ENSP00000480780.1:p.Ile378Ser
ENST00000614895.4:c.4928T>G	ENSP00000478512.1:p.Ile1643Ser
ENST00000616114.4:c.4910T>G	ENSP00000483745.1:p.Ile1637Ser
ENST00000618301.4:c.1265T>G	ENSP00000482780.1:p.Ile422Ser
ENST00000621708.4:c.4931T>G	ENSP00000484454.1:p.Ile1644Ser
NM_001142771.1:c.4931T>G	NP_001136243.1:p.Ile1644Ser
NM_001142772.1:c.4916T>G	NP_001136244.1:p.Ile1639Ser
NM_001354420.1:c.4910T>G	NP_001341349.1:p.Ile1637Ser
NM_001354429.1:c.5039T>G	NP_001341358.1:p.Ile1680Ser
XR_001747192.2:n.11397T>G
XR_001747193.2:n.11388T>G
NM_001142771.2:c.4931T>G	NP_001136243.1:p.Ile1644Ser
NM_001142772.2:c.4916T>G	NP_001136244.1:p.Ile1639Ser
NM_001354420.2:c.4910T>G	NP_001341349.1:p.Ile1637Ser
NM_001354429.2:c.5039T>G	NP_001341358.1:p.Ile1680Ser
NM_001384140.1:c.5105T>G MANE Select	NP_001371069.1:p.Ile1702Ser