Canonical Allele Identifier: CA469545222

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566342C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806582C>G , CM000672.2:g.53806582C>G	GRCh38
NC_000010.10:g.55566342C>G , CM000672.1:g.55566342C>G	GRCh37
NC_000010.9:g.55236348C>G	NCBI36
NG_009191.2:g.999710G>C
NG_009191.3:g.1827601G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4079G>C
ENST00000644397.2:c.5220G>C MANE Select	ENSP00000495195.1:p.Leu1740=
ENST00000373965.6:c.5031G>C	ENSP00000363076.3:p.Leu1677=
ENST00000414778.5:c.5028G>C	ENSP00000410304.2:p.Leu1676=
ENST00000495484.5:c.1248G>C	ENSP00000480780.1:p.Leu416=
ENST00000614895.4:c.5043G>C	ENSP00000478512.1:p.Leu1681=
ENST00000616114.4:c.5025G>C	ENSP00000483745.1:p.Leu1675=
ENST00000618301.4:c.1380G>C	ENSP00000482780.1:p.Leu460=
ENST00000621708.4:c.5046G>C	ENSP00000484454.1:p.Leu1682=
NM_001142771.1:c.5046G>C	NP_001136243.1:p.Leu1682=
NM_001142772.1:c.5031G>C	NP_001136244.1:p.Leu1677=
NM_001354420.1:c.5025G>C	NP_001341349.1:p.Leu1675=
NM_001354429.1:c.5154G>C	NP_001341358.1:p.Leu1718=
XR_001747192.2:n.11512G>C
XR_001747193.2:n.11503G>C
NM_001142771.2:c.5046G>C	NP_001136243.1:p.Leu1682=
NM_001142772.2:c.5031G>C	NP_001136244.1:p.Leu1677=
NM_001354420.2:c.5025G>C	NP_001341349.1:p.Leu1675=
NM_001354429.2:c.5154G>C	NP_001341358.1:p.Leu1718=
NM_001384140.1:c.5220G>C MANE Select	NP_001371069.1:p.Leu1740=