Canonical Allele Identifier: CA376516140

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53806732-G-T
• MyVariant Identifiers: chr10:g.55566492G>T (hg19) ; chr10:g.53806732G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806732G>T , CM000672.2:g.53806732G>T	GRCh38
NC_000010.10:g.55566492G>T , CM000672.1:g.55566492G>T	GRCh37
NC_000010.9:g.55236498G>T	NCBI36
NG_009191.2:g.999560C>A
NG_009191.3:g.1827451C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3929C>A
ENST00000644397.2:c.5070C>A MANE Select	ENSP00000495195.1:p.Asn1690Lys
ENST00000373965.6:c.4881C>A	ENSP00000363076.3:p.Asn1627Lys
ENST00000414778.5:c.4878C>A	ENSP00000410304.2:p.Asn1626Lys
ENST00000495484.5:c.1098C>A	ENSP00000480780.1:p.Asn366Lys
ENST00000614895.4:c.4893C>A	ENSP00000478512.1:p.Asn1631Lys
ENST00000616114.4:c.4875C>A	ENSP00000483745.1:p.Asn1625Lys
ENST00000618301.4:c.1230C>A	ENSP00000482780.1:p.Asn410Lys
ENST00000621708.4:c.4896C>A	ENSP00000484454.1:p.Asn1632Lys
NM_001142771.1:c.4896C>A	NP_001136243.1:p.Asn1632Lys
NM_001142772.1:c.4881C>A	NP_001136244.1:p.Asn1627Lys
NM_001354420.1:c.4875C>A	NP_001341349.1:p.Asn1625Lys
NM_001354429.1:c.5004C>A	NP_001341358.1:p.Asn1668Lys
XR_001747192.2:n.11362C>A
XR_001747193.2:n.11353C>A
NM_001142771.2:c.4896C>A	NP_001136243.1:p.Asn1632Lys
NM_001142772.2:c.4881C>A	NP_001136244.1:p.Asn1627Lys
NM_001354420.2:c.4875C>A	NP_001341349.1:p.Asn1625Lys
NM_001354429.2:c.5004C>A	NP_001341358.1:p.Asn1668Lys
NM_001384140.1:c.5070C>A MANE Select	NP_001371069.1:p.Asn1690Lys