Canonical Allele Identifier: CA376515985

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566448T>C (hg19) ; chr10:g.53806688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806688T>C , CM000672.2:g.53806688T>C	GRCh38
NC_000010.10:g.55566448T>C , CM000672.1:g.55566448T>C	GRCh37
NC_000010.9:g.55236454T>C	NCBI36
NG_009191.2:g.999604A>G
NG_009191.3:g.1827495A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3973A>G
ENST00000644397.2:c.5114A>G MANE Select	ENSP00000495195.1:p.Lys1705Arg
ENST00000373965.6:c.4925A>G	ENSP00000363076.3:p.Lys1642Arg
ENST00000414778.5:c.4922A>G	ENSP00000410304.2:p.Lys1641Arg
ENST00000495484.5:c.1142A>G	ENSP00000480780.1:p.Lys381Arg
ENST00000614895.4:c.4937A>G	ENSP00000478512.1:p.Lys1646Arg
ENST00000616114.4:c.4919A>G	ENSP00000483745.1:p.Lys1640Arg
ENST00000618301.4:c.1274A>G	ENSP00000482780.1:p.Lys425Arg
ENST00000621708.4:c.4940A>G	ENSP00000484454.1:p.Lys1647Arg
NM_001142771.1:c.4940A>G	NP_001136243.1:p.Lys1647Arg
NM_001142772.1:c.4925A>G	NP_001136244.1:p.Lys1642Arg
NM_001354420.1:c.4919A>G	NP_001341349.1:p.Lys1640Arg
NM_001354429.1:c.5048A>G	NP_001341358.1:p.Lys1683Arg
XR_001747192.2:n.11406A>G
XR_001747193.2:n.11397A>G
NM_001142771.2:c.4940A>G	NP_001136243.1:p.Lys1647Arg
NM_001142772.2:c.4925A>G	NP_001136244.1:p.Lys1642Arg
NM_001354420.2:c.4919A>G	NP_001341349.1:p.Lys1640Arg
NM_001354429.2:c.5048A>G	NP_001341358.1:p.Lys1683Arg
NM_001384140.1:c.5114A>G MANE Select	NP_001371069.1:p.Lys1705Arg