Canonical Allele Identifier: CA376516080

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566476C>G (hg19) ; chr10:g.53806716C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806716C>G , CM000672.2:g.53806716C>G	GRCh38
NC_000010.10:g.55566476C>G , CM000672.1:g.55566476C>G	GRCh37
NC_000010.9:g.55236482C>G	NCBI36
NG_009191.2:g.999576G>C
NG_009191.3:g.1827467G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3945G>C
ENST00000644397.2:c.5086G>C MANE Select	ENSP00000495195.1:p.Val1696Leu
ENST00000373965.6:c.4897G>C	ENSP00000363076.3:p.Val1633Leu
ENST00000414778.5:c.4894G>C	ENSP00000410304.2:p.Val1632Leu
ENST00000495484.5:c.1114G>C	ENSP00000480780.1:p.Val372Leu
ENST00000614895.4:c.4909G>C	ENSP00000478512.1:p.Val1637Leu
ENST00000616114.4:c.4891G>C	ENSP00000483745.1:p.Val1631Leu
ENST00000618301.4:c.1246G>C	ENSP00000482780.1:p.Val416Leu
ENST00000621708.4:c.4912G>C	ENSP00000484454.1:p.Val1638Leu
NM_001142771.1:c.4912G>C	NP_001136243.1:p.Val1638Leu
NM_001142772.1:c.4897G>C	NP_001136244.1:p.Val1633Leu
NM_001354420.1:c.4891G>C	NP_001341349.1:p.Val1631Leu
NM_001354429.1:c.5020G>C	NP_001341358.1:p.Val1674Leu
XR_001747192.2:n.11378G>C
XR_001747193.2:n.11369G>C
NM_001142771.2:c.4912G>C	NP_001136243.1:p.Val1638Leu
NM_001142772.2:c.4897G>C	NP_001136244.1:p.Val1633Leu
NM_001354420.2:c.4891G>C	NP_001341349.1:p.Val1631Leu
NM_001354429.2:c.5020G>C	NP_001341358.1:p.Val1674Leu
NM_001384140.1:c.5086G>C MANE Select	NP_001371069.1:p.Val1696Leu