Canonical Allele Identifier: CA376516073

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566472T>G (hg19) ; chr10:g.53806712T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806712T>G , CM000672.2:g.53806712T>G	GRCh38
NC_000010.10:g.55566472T>G , CM000672.1:g.55566472T>G	GRCh37
NC_000010.9:g.55236478T>G	NCBI36
NG_009191.2:g.999580A>C
NG_009191.3:g.1827471A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3949A>C
ENST00000644397.2:c.5090A>C MANE Select	ENSP00000495195.1:p.Glu1697Ala
ENST00000373965.6:c.4901A>C	ENSP00000363076.3:p.Glu1634Ala
ENST00000414778.5:c.4898A>C	ENSP00000410304.2:p.Glu1633Ala
ENST00000495484.5:c.1118A>C	ENSP00000480780.1:p.Glu373Ala
ENST00000614895.4:c.4913A>C	ENSP00000478512.1:p.Glu1638Ala
ENST00000616114.4:c.4895A>C	ENSP00000483745.1:p.Glu1632Ala
ENST00000618301.4:c.1250A>C	ENSP00000482780.1:p.Glu417Ala
ENST00000621708.4:c.4916A>C	ENSP00000484454.1:p.Glu1639Ala
NM_001142771.1:c.4916A>C	NP_001136243.1:p.Glu1639Ala
NM_001142772.1:c.4901A>C	NP_001136244.1:p.Glu1634Ala
NM_001354420.1:c.4895A>C	NP_001341349.1:p.Glu1632Ala
NM_001354429.1:c.5024A>C	NP_001341358.1:p.Glu1675Ala
XR_001747192.2:n.11382A>C
XR_001747193.2:n.11373A>C
NM_001142771.2:c.4916A>C	NP_001136243.1:p.Glu1639Ala
NM_001142772.2:c.4901A>C	NP_001136244.1:p.Glu1634Ala
NM_001354420.2:c.4895A>C	NP_001341349.1:p.Glu1632Ala
NM_001354429.2:c.5024A>C	NP_001341358.1:p.Glu1675Ala
NM_001384140.1:c.5090A>C MANE Select	NP_001371069.1:p.Glu1697Ala