Canonical Allele Identifier: CA376515752

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566377G>C (hg19) ; chr10:g.53806617G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806617G>C , CM000672.2:g.53806617G>C	GRCh38
NC_000010.10:g.55566377G>C , CM000672.1:g.55566377G>C	GRCh37
NC_000010.9:g.55236383G>C	NCBI36
NG_009191.2:g.999675C>G
NG_009191.3:g.1827566C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4044C>G
ENST00000644397.2:c.5185C>G MANE Select	ENSP00000495195.1:p.Pro1729Ala
ENST00000373965.6:c.4996C>G	ENSP00000363076.3:p.Pro1666Ala
ENST00000414778.5:c.4993C>G	ENSP00000410304.2:p.Pro1665Ala
ENST00000495484.5:c.1213C>G	ENSP00000480780.1:p.Pro405Ala
ENST00000614895.4:c.5008C>G	ENSP00000478512.1:p.Pro1670Ala
ENST00000616114.4:c.4990C>G	ENSP00000483745.1:p.Pro1664Ala
ENST00000618301.4:c.1345C>G	ENSP00000482780.1:p.Pro449Ala
ENST00000621708.4:c.5011C>G	ENSP00000484454.1:p.Pro1671Ala
NM_001142771.1:c.5011C>G	NP_001136243.1:p.Pro1671Ala
NM_001142772.1:c.4996C>G	NP_001136244.1:p.Pro1666Ala
NM_001354420.1:c.4990C>G	NP_001341349.1:p.Pro1664Ala
NM_001354429.1:c.5119C>G	NP_001341358.1:p.Pro1707Ala
XR_001747192.2:n.11477C>G
XR_001747193.2:n.11468C>G
NM_001142771.2:c.5011C>G	NP_001136243.1:p.Pro1671Ala
NM_001142772.2:c.4996C>G	NP_001136244.1:p.Pro1666Ala
NM_001354420.2:c.4990C>G	NP_001341349.1:p.Pro1664Ala
NM_001354429.2:c.5119C>G	NP_001341358.1:p.Pro1707Ala
NM_001384140.1:c.5185C>G MANE Select	NP_001371069.1:p.Pro1729Ala