Canonical Allele Identifier: CA376516008

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566455C>A (hg19) ; chr10:g.53806695C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806695C>A , CM000672.2:g.53806695C>A	GRCh38
NC_000010.10:g.55566455C>A , CM000672.1:g.55566455C>A	GRCh37
NC_000010.9:g.55236461C>A	NCBI36
NG_009191.2:g.999597G>T
NG_009191.3:g.1827488G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3966G>T
ENST00000644397.2:c.5107G>T MANE Select	ENSP00000495195.1:p.Asp1703Tyr
ENST00000373965.6:c.4918G>T	ENSP00000363076.3:p.Asp1640Tyr
ENST00000414778.5:c.4915G>T	ENSP00000410304.2:p.Asp1639Tyr
ENST00000495484.5:c.1135G>T	ENSP00000480780.1:p.Asp379Tyr
ENST00000614895.4:c.4930G>T	ENSP00000478512.1:p.Asp1644Tyr
ENST00000616114.4:c.4912G>T	ENSP00000483745.1:p.Asp1638Tyr
ENST00000618301.4:c.1267G>T	ENSP00000482780.1:p.Asp423Tyr
ENST00000621708.4:c.4933G>T	ENSP00000484454.1:p.Asp1645Tyr
NM_001142771.1:c.4933G>T	NP_001136243.1:p.Asp1645Tyr
NM_001142772.1:c.4918G>T	NP_001136244.1:p.Asp1640Tyr
NM_001354420.1:c.4912G>T	NP_001341349.1:p.Asp1638Tyr
NM_001354429.1:c.5041G>T	NP_001341358.1:p.Asp1681Tyr
XR_001747192.2:n.11399G>T
XR_001747193.2:n.11390G>T
NM_001142771.2:c.4933G>T	NP_001136243.1:p.Asp1645Tyr
NM_001142772.2:c.4918G>T	NP_001136244.1:p.Asp1640Tyr
NM_001354420.2:c.4912G>T	NP_001341349.1:p.Asp1638Tyr
NM_001354429.2:c.5041G>T	NP_001341358.1:p.Asp1681Tyr
NM_001384140.1:c.5107G>T MANE Select	NP_001371069.1:p.Asp1703Tyr