Canonical Allele Identifier: CA376516288

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566530C>G (hg19) ; chr10:g.53806770C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806770C>G , CM000672.2:g.53806770C>G	GRCh38
NC_000010.10:g.55566530C>G , CM000672.1:g.55566530C>G	GRCh37
NC_000010.9:g.55236536C>G	NCBI36
NG_009191.2:g.999522G>C
NG_009191.3:g.1827413G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3891G>C
ENST00000644397.2:c.5032G>C MANE Select	ENSP00000495195.1:p.Val1678Leu
ENST00000373965.6:c.4843G>C	ENSP00000363076.3:p.Val1615Leu
ENST00000414778.5:c.4840G>C	ENSP00000410304.2:p.Val1614Leu
ENST00000495484.5:c.1060G>C	ENSP00000480780.1:p.Val354Leu
ENST00000614895.4:c.4855G>C	ENSP00000478512.1:p.Val1619Leu
ENST00000616114.4:c.4837G>C	ENSP00000483745.1:p.Val1613Leu
ENST00000618301.4:c.1192G>C	ENSP00000482780.1:p.Val398Leu
ENST00000621708.4:c.4858G>C	ENSP00000484454.1:p.Val1620Leu
NM_001142771.1:c.4858G>C	NP_001136243.1:p.Val1620Leu
NM_001142772.1:c.4843G>C	NP_001136244.1:p.Val1615Leu
NM_001354420.1:c.4837G>C	NP_001341349.1:p.Val1613Leu
NM_001354429.1:c.4966G>C	NP_001341358.1:p.Val1656Leu
XR_001747192.2:n.11324G>C
XR_001747193.2:n.11315G>C
NM_001142771.2:c.4858G>C	NP_001136243.1:p.Val1620Leu
NM_001142772.2:c.4843G>C	NP_001136244.1:p.Val1615Leu
NM_001354420.2:c.4837G>C	NP_001341349.1:p.Val1613Leu
NM_001354429.2:c.4966G>C	NP_001341358.1:p.Val1656Leu
NM_001384140.1:c.5032G>C MANE Select	NP_001371069.1:p.Val1678Leu