Canonical Allele Identifier: CA207195673

Gene: PCDH15

Linked Data

• dbSNP Id: rs373204130
• MyVariant Identifiers: chr10:g.55566384C>A (hg19) ; chr10:g.53806624C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806624C>A , CM000672.2:g.53806624C>A	GRCh38
NC_000010.10:g.55566384C>A , CM000672.1:g.55566384C>A	GRCh37
NC_000010.9:g.55236390C>A	NCBI36
NG_009191.2:g.999668G>T
NG_009191.3:g.1827559G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4037G>T
ENST00000644397.2:c.5178G>T MANE Select	ENSP00000495195.1:p.Trp1726Cys
ENST00000373965.6:c.4989G>T	ENSP00000363076.3:p.Trp1663Cys
ENST00000414778.5:c.4986G>T	ENSP00000410304.2:p.Trp1662Cys
ENST00000495484.5:c.1206G>T	ENSP00000480780.1:p.Trp402Cys
ENST00000614895.4:c.5001G>T	ENSP00000478512.1:p.Trp1667Cys
ENST00000616114.4:c.4983G>T	ENSP00000483745.1:p.Trp1661Cys
ENST00000618301.4:c.1338G>T	ENSP00000482780.1:p.Trp446Cys
ENST00000621708.4:c.5004G>T	ENSP00000484454.1:p.Trp1668Cys
NM_001142771.1:c.5004G>T	NP_001136243.1:p.Trp1668Cys
NM_001142772.1:c.4989G>T	NP_001136244.1:p.Trp1663Cys
NM_001354420.1:c.4983G>T	NP_001341349.1:p.Trp1661Cys
NM_001354429.1:c.5112G>T	NP_001341358.1:p.Trp1704Cys
XR_001747192.2:n.11470G>T
XR_001747193.2:n.11461G>T
NM_001142771.2:c.5004G>T	NP_001136243.1:p.Trp1668Cys
NM_001142772.2:c.4989G>T	NP_001136244.1:p.Trp1663Cys
NM_001354420.2:c.4983G>T	NP_001341349.1:p.Trp1661Cys
NM_001354429.2:c.5112G>T	NP_001341358.1:p.Trp1704Cys
NM_001384140.1:c.5178G>T MANE Select	NP_001371069.1:p.Trp1726Cys