Canonical Allele Identifier: CA376515947

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566440T>A (hg19) ; chr10:g.53806680T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806680T>A , CM000672.2:g.53806680T>A	GRCh38
NC_000010.10:g.55566440T>A , CM000672.1:g.55566440T>A	GRCh37
NC_000010.9:g.55236446T>A	NCBI36
NG_009191.2:g.999612A>T
NG_009191.3:g.1827503A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3981A>T
ENST00000644397.2:c.5122A>T MANE Select	ENSP00000495195.1:p.Lys1708Ter
ENST00000373965.6:c.4933A>T	ENSP00000363076.3:p.Lys1645Ter
ENST00000414778.5:c.4930A>T	ENSP00000410304.2:p.Lys1644Ter
ENST00000495484.5:c.1150A>T	ENSP00000480780.1:p.Lys384Ter
ENST00000614895.4:c.4945A>T	ENSP00000478512.1:p.Lys1649Ter
ENST00000616114.4:c.4927A>T	ENSP00000483745.1:p.Lys1643Ter
ENST00000618301.4:c.1282A>T	ENSP00000482780.1:p.Lys428Ter
ENST00000621708.4:c.4948A>T	ENSP00000484454.1:p.Lys1650Ter
NM_001142771.1:c.4948A>T	NP_001136243.1:p.Lys1650Ter
NM_001142772.1:c.4933A>T	NP_001136244.1:p.Lys1645Ter
NM_001354420.1:c.4927A>T	NP_001341349.1:p.Lys1643Ter
NM_001354429.1:c.5056A>T	NP_001341358.1:p.Lys1686Ter
XR_001747192.2:n.11414A>T
XR_001747193.2:n.11405A>T
NM_001142771.2:c.4948A>T	NP_001136243.1:p.Lys1650Ter
NM_001142772.2:c.4933A>T	NP_001136244.1:p.Lys1645Ter
NM_001354420.2:c.4927A>T	NP_001341349.1:p.Lys1643Ter
NM_001354429.2:c.5056A>T	NP_001341358.1:p.Lys1686Ter
NM_001384140.1:c.5122A>T MANE Select	NP_001371069.1:p.Lys1708Ter