Canonical Allele Identifier: CA376515857

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566418C>A (hg19) ; chr10:g.53806658C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806658C>A , CM000672.2:g.53806658C>A	GRCh38
NC_000010.10:g.55566418C>A , CM000672.1:g.55566418C>A	GRCh37
NC_000010.9:g.55236424C>A	NCBI36
NG_009191.2:g.999634G>T
NG_009191.3:g.1827525G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4003G>T
ENST00000644397.2:c.5144G>T MANE Select	ENSP00000495195.1:p.Ser1715Ile
ENST00000373965.6:c.4955G>T	ENSP00000363076.3:p.Ser1652Ile
ENST00000414778.5:c.4952G>T	ENSP00000410304.2:p.Ser1651Ile
ENST00000495484.5:c.1172G>T	ENSP00000480780.1:p.Ser391Ile
ENST00000614895.4:c.4967G>T	ENSP00000478512.1:p.Ser1656Ile
ENST00000616114.4:c.4949G>T	ENSP00000483745.1:p.Ser1650Ile
ENST00000618301.4:c.1304G>T	ENSP00000482780.1:p.Ser435Ile
ENST00000621708.4:c.4970G>T	ENSP00000484454.1:p.Ser1657Ile
NM_001142771.1:c.4970G>T	NP_001136243.1:p.Ser1657Ile
NM_001142772.1:c.4955G>T	NP_001136244.1:p.Ser1652Ile
NM_001354420.1:c.4949G>T	NP_001341349.1:p.Ser1650Ile
NM_001354429.1:c.5078G>T	NP_001341358.1:p.Ser1693Ile
XR_001747192.2:n.11436G>T
XR_001747193.2:n.11427G>T
NM_001142771.2:c.4970G>T	NP_001136243.1:p.Ser1657Ile
NM_001142772.2:c.4955G>T	NP_001136244.1:p.Ser1652Ile
NM_001354420.2:c.4949G>T	NP_001341349.1:p.Ser1650Ile
NM_001354429.2:c.5078G>T	NP_001341358.1:p.Ser1693Ile
NM_001384140.1:c.5144G>T MANE Select	NP_001371069.1:p.Ser1715Ile