Canonical Allele Identifier: CA376515925

Gene: PCDH15

Linked Data

• dbSNP Id: rs1330996866
• gnomAD v2: 10-55566434-C-G
• gnomAD v4: 10-53806674-C-G
• MyVariant Identifiers: chr10:g.55566434C>G (hg19) ; chr10:g.53806674C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806674C>G , CM000672.2:g.53806674C>G	GRCh38
NC_000010.10:g.55566434C>G , CM000672.1:g.55566434C>G	GRCh37
NC_000010.9:g.55236440C>G	NCBI36
NG_009191.2:g.999618G>C
NG_009191.3:g.1827509G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3987G>C
ENST00000644397.2:c.5128G>C MANE Select	ENSP00000495195.1:p.Ala1710Pro
ENST00000373965.6:c.4939G>C	ENSP00000363076.3:p.Ala1647Pro
ENST00000414778.5:c.4936G>C	ENSP00000410304.2:p.Ala1646Pro
ENST00000495484.5:c.1156G>C	ENSP00000480780.1:p.Ala386Pro
ENST00000614895.4:c.4951G>C	ENSP00000478512.1:p.Ala1651Pro
ENST00000616114.4:c.4933G>C	ENSP00000483745.1:p.Ala1645Pro
ENST00000618301.4:c.1288G>C	ENSP00000482780.1:p.Ala430Pro
ENST00000621708.4:c.4954G>C	ENSP00000484454.1:p.Ala1652Pro
NM_001142771.1:c.4954G>C	NP_001136243.1:p.Ala1652Pro
NM_001142772.1:c.4939G>C	NP_001136244.1:p.Ala1647Pro
NM_001354420.1:c.4933G>C	NP_001341349.1:p.Ala1645Pro
NM_001354429.1:c.5062G>C	NP_001341358.1:p.Ala1688Pro
XR_001747192.2:n.11420G>C
XR_001747193.2:n.11411G>C
NM_001142771.2:c.4954G>C	NP_001136243.1:p.Ala1652Pro
NM_001142772.2:c.4939G>C	NP_001136244.1:p.Ala1647Pro
NM_001354420.2:c.4933G>C	NP_001341349.1:p.Ala1645Pro
NM_001354429.2:c.5062G>C	NP_001341358.1:p.Ala1688Pro
NM_001384140.1:c.5128G>C MANE Select	NP_001371069.1:p.Ala1710Pro