Canonical Allele Identifier: CA376516023

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566460A>C (hg19) ; chr10:g.53806700A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806700A>C , CM000672.2:g.53806700A>C	GRCh38
NC_000010.10:g.55566460A>C , CM000672.1:g.55566460A>C	GRCh37
NC_000010.9:g.55236466A>C	NCBI36
NG_009191.2:g.999592T>G
NG_009191.3:g.1827483T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3961T>G
ENST00000644397.2:c.5102T>G MANE Select	ENSP00000495195.1:p.Met1701Arg
ENST00000373965.6:c.4913T>G	ENSP00000363076.3:p.Met1638Arg
ENST00000414778.5:c.4910T>G	ENSP00000410304.2:p.Met1637Arg
ENST00000495484.5:c.1130T>G	ENSP00000480780.1:p.Met377Arg
ENST00000614895.4:c.4925T>G	ENSP00000478512.1:p.Met1642Arg
ENST00000616114.4:c.4907T>G	ENSP00000483745.1:p.Met1636Arg
ENST00000618301.4:c.1262T>G	ENSP00000482780.1:p.Met421Arg
ENST00000621708.4:c.4928T>G	ENSP00000484454.1:p.Met1643Arg
NM_001142771.1:c.4928T>G	NP_001136243.1:p.Met1643Arg
NM_001142772.1:c.4913T>G	NP_001136244.1:p.Met1638Arg
NM_001354420.1:c.4907T>G	NP_001341349.1:p.Met1636Arg
NM_001354429.1:c.5036T>G	NP_001341358.1:p.Met1679Arg
XR_001747192.2:n.11394T>G
XR_001747193.2:n.11385T>G
NM_001142771.2:c.4928T>G	NP_001136243.1:p.Met1643Arg
NM_001142772.2:c.4913T>G	NP_001136244.1:p.Met1638Arg
NM_001354420.2:c.4907T>G	NP_001341349.1:p.Met1636Arg
NM_001354429.2:c.5036T>G	NP_001341358.1:p.Met1679Arg
NM_001384140.1:c.5102T>G MANE Select	NP_001371069.1:p.Met1701Arg