Canonical Allele Identifier: CA469545847

Gene: PCDH15

Linked Data

• dbSNP Id: rs1372926284
• gnomAD v3: 10-53806681-G-T
• gnomAD v4: 10-53806681-G-T
• COSMIC: COSM331683
• MyVariant Identifiers: chr10:g.55566441G>T (hg19) ; chr10:g.53806681G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806681G>T , CM000672.2:g.53806681G>T	GRCh38
NC_000010.10:g.55566441G>T , CM000672.1:g.55566441G>T	GRCh37
NC_000010.9:g.55236447G>T	NCBI36
NG_009191.2:g.999611C>A
NG_009191.3:g.1827502C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3980C>A
ENST00000644397.2:c.5121C>A MANE Select	ENSP00000495195.1:p.Ile1707=
ENST00000373965.6:c.4932C>A	ENSP00000363076.3:p.Ile1644=
ENST00000414778.5:c.4929C>A	ENSP00000410304.2:p.Ile1643=
ENST00000495484.5:c.1149C>A	ENSP00000480780.1:p.Ile383=
ENST00000614895.4:c.4944C>A	ENSP00000478512.1:p.Ile1648=
ENST00000616114.4:c.4926C>A	ENSP00000483745.1:p.Ile1642=
ENST00000618301.4:c.1281C>A	ENSP00000482780.1:p.Ile427=
ENST00000621708.4:c.4947C>A	ENSP00000484454.1:p.Ile1649=
NM_001142771.1:c.4947C>A	NP_001136243.1:p.Ile1649=
NM_001142772.1:c.4932C>A	NP_001136244.1:p.Ile1644=
NM_001354420.1:c.4926C>A	NP_001341349.1:p.Ile1642=
NM_001354429.1:c.5055C>A	NP_001341358.1:p.Ile1685=
XR_001747192.2:n.11413C>A
XR_001747193.2:n.11404C>A
NM_001142771.2:c.4947C>A	NP_001136243.1:p.Ile1649=
NM_001142772.2:c.4932C>A	NP_001136244.1:p.Ile1644=
NM_001354420.2:c.4926C>A	NP_001341349.1:p.Ile1642=
NM_001354429.2:c.5055C>A	NP_001341358.1:p.Ile1685=
NM_001384140.1:c.5121C>A MANE Select	NP_001371069.1:p.Ile1707=