Canonical Allele Identifier: CA376515652

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566346T>G (hg19) ; chr10:g.53806586T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806586T>G , CM000672.2:g.53806586T>G	GRCh38
NC_000010.10:g.55566346T>G , CM000672.1:g.55566346T>G	GRCh37
NC_000010.9:g.55236352T>G	NCBI36
NG_009191.2:g.999706A>C
NG_009191.3:g.1827597A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4075A>C
ENST00000644397.2:c.5216A>C MANE Select	ENSP00000495195.1:p.Lys1739Thr
ENST00000373965.6:c.5027A>C	ENSP00000363076.3:p.Lys1676Thr
ENST00000414778.5:c.5024A>C	ENSP00000410304.2:p.Lys1675Thr
ENST00000495484.5:c.1244A>C	ENSP00000480780.1:p.Lys415Thr
ENST00000614895.4:c.5039A>C	ENSP00000478512.1:p.Lys1680Thr
ENST00000616114.4:c.5021A>C	ENSP00000483745.1:p.Lys1674Thr
ENST00000618301.4:c.1376A>C	ENSP00000482780.1:p.Lys459Thr
ENST00000621708.4:c.5042A>C	ENSP00000484454.1:p.Lys1681Thr
NM_001142771.1:c.5042A>C	NP_001136243.1:p.Lys1681Thr
NM_001142772.1:c.5027A>C	NP_001136244.1:p.Lys1676Thr
NM_001354420.1:c.5021A>C	NP_001341349.1:p.Lys1674Thr
NM_001354429.1:c.5150A>C	NP_001341358.1:p.Lys1717Thr
XR_001747192.2:n.11508A>C
XR_001747193.2:n.11499A>C
NM_001142771.2:c.5042A>C	NP_001136243.1:p.Lys1681Thr
NM_001142772.2:c.5027A>C	NP_001136244.1:p.Lys1676Thr
NM_001354420.2:c.5021A>C	NP_001341349.1:p.Lys1674Thr
NM_001354429.2:c.5150A>C	NP_001341358.1:p.Lys1717Thr
NM_001384140.1:c.5216A>C MANE Select	NP_001371069.1:p.Lys1739Thr