Canonical Allele Identifier: CA376516111

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566484T>C (hg19) ; chr10:g.53806724T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806724T>C , CM000672.2:g.53806724T>C	GRCh38
NC_000010.10:g.55566484T>C , CM000672.1:g.55566484T>C	GRCh37
NC_000010.9:g.55236490T>C	NCBI36
NG_009191.2:g.999568A>G
NG_009191.3:g.1827459A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3937A>G
ENST00000644397.2:c.5078A>G MANE Select	ENSP00000495195.1:p.Lys1693Arg
ENST00000373965.6:c.4889A>G	ENSP00000363076.3:p.Lys1630Arg
ENST00000414778.5:c.4886A>G	ENSP00000410304.2:p.Lys1629Arg
ENST00000495484.5:c.1106A>G	ENSP00000480780.1:p.Lys369Arg
ENST00000614895.4:c.4901A>G	ENSP00000478512.1:p.Lys1634Arg
ENST00000616114.4:c.4883A>G	ENSP00000483745.1:p.Lys1628Arg
ENST00000618301.4:c.1238A>G	ENSP00000482780.1:p.Lys413Arg
ENST00000621708.4:c.4904A>G	ENSP00000484454.1:p.Lys1635Arg
NM_001142771.1:c.4904A>G	NP_001136243.1:p.Lys1635Arg
NM_001142772.1:c.4889A>G	NP_001136244.1:p.Lys1630Arg
NM_001354420.1:c.4883A>G	NP_001341349.1:p.Lys1628Arg
NM_001354429.1:c.5012A>G	NP_001341358.1:p.Lys1671Arg
XR_001747192.2:n.11370A>G
XR_001747193.2:n.11361A>G
NM_001142771.2:c.4904A>G	NP_001136243.1:p.Lys1635Arg
NM_001142772.2:c.4889A>G	NP_001136244.1:p.Lys1630Arg
NM_001354420.2:c.4883A>G	NP_001341349.1:p.Lys1628Arg
NM_001354429.2:c.5012A>G	NP_001341358.1:p.Lys1671Arg
NM_001384140.1:c.5078A>G MANE Select	NP_001371069.1:p.Lys1693Arg