Canonical Allele Identifier: CA5504512

Gene: PCDH15

Linked Data

• dbSNP Id: rs748166170
• ExAC: 10:55566457 A / G
• gnomAD v2: 10-55566457-A-G
• gnomAD v3: 10-53806697-A-G
• gnomAD v4: 10-53806697-A-G
• MyVariant Identifiers: chr10:g.55566457A>G (hg19) ; chr10:g.53806697A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3964T>C
ENST00000644397.2:c.5105T>C MANE Select	ENSP00000495195.1:p.Ile1702Thr
ENST00000373965.6:c.4916T>C	ENSP00000363076.3:p.Ile1639Thr
ENST00000414778.5:c.4913T>C	ENSP00000410304.2:p.Ile1638Thr
ENST00000495484.5:c.1133T>C	ENSP00000480780.1:p.Ile378Thr
ENST00000614895.4:c.4928T>C	ENSP00000478512.1:p.Ile1643Thr
ENST00000616114.4:c.4910T>C	ENSP00000483745.1:p.Ile1637Thr
ENST00000618301.4:c.1265T>C	ENSP00000482780.1:p.Ile422Thr
ENST00000621708.4:c.4931T>C	ENSP00000484454.1:p.Ile1644Thr
NM_001142771.1:c.4931T>C	NP_001136243.1:p.Ile1644Thr
NM_001142772.1:c.4916T>C	NP_001136244.1:p.Ile1639Thr
NM_001354420.1:c.4910T>C	NP_001341349.1:p.Ile1637Thr
NM_001354429.1:c.5039T>C	NP_001341358.1:p.Ile1680Thr
XR_001747192.2:n.11397T>C
XR_001747193.2:n.11388T>C
NM_001142771.2:c.4931T>C	NP_001136243.1:p.Ile1644Thr
NM_001142772.2:c.4916T>C	NP_001136244.1:p.Ile1639Thr
NM_001354420.2:c.4910T>C	NP_001341349.1:p.Ile1637Thr
NM_001354429.2:c.5039T>C	NP_001341358.1:p.Ile1680Thr
NM_001384140.1:c.5105T>C MANE Select	NP_001371069.1:p.Ile1702Thr