Canonical Allele Identifier: CA5504485

Gene: PCDH15

Linked Data

• dbSNP Id: rs527870166
• ExAC: 10:55566344 G / C
• gnomAD v2: 10-55566344-G-C
• gnomAD v4: 10-53806584-G-C
• MyVariant Identifiers: chr10:g.55566344G>C (hg19) ; chr10:g.53806584G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806584G>C , CM000672.2:g.53806584G>C	GRCh38
NC_000010.10:g.55566344G>C , CM000672.1:g.55566344G>C	GRCh37
NC_000010.9:g.55236350G>C	NCBI36
NG_009191.2:g.999708C>G
NG_009191.3:g.1827599C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4077C>G
ENST00000644397.2:c.5218C>G MANE Select	ENSP00000495195.1:p.Leu1740Val
ENST00000373965.6:c.5029C>G	ENSP00000363076.3:p.Leu1677Val
ENST00000414778.5:c.5026C>G	ENSP00000410304.2:p.Leu1676Val
ENST00000495484.5:c.1246C>G	ENSP00000480780.1:p.Leu416Val
ENST00000614895.4:c.5041C>G	ENSP00000478512.1:p.Leu1681Val
ENST00000616114.4:c.5023C>G	ENSP00000483745.1:p.Leu1675Val
ENST00000618301.4:c.1378C>G	ENSP00000482780.1:p.Leu460Val
ENST00000621708.4:c.5044C>G	ENSP00000484454.1:p.Leu1682Val
NM_001142771.1:c.5044C>G	NP_001136243.1:p.Leu1682Val
NM_001142772.1:c.5029C>G	NP_001136244.1:p.Leu1677Val
NM_001354420.1:c.5023C>G	NP_001341349.1:p.Leu1675Val
NM_001354429.1:c.5152C>G	NP_001341358.1:p.Leu1718Val
XR_001747192.2:n.11510C>G
XR_001747193.2:n.11501C>G
NM_001142771.2:c.5044C>G	NP_001136243.1:p.Leu1682Val
NM_001142772.2:c.5029C>G	NP_001136244.1:p.Leu1677Val
NM_001354420.2:c.5023C>G	NP_001341349.1:p.Leu1675Val
NM_001354429.2:c.5152C>G	NP_001341358.1:p.Leu1718Val
NM_001384140.1:c.5218C>G MANE Select	NP_001371069.1:p.Leu1740Val