Canonical Allele Identifier: CA376516040

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566464A>G (hg19) ; chr10:g.53806704A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806704A>G , CM000672.2:g.53806704A>G	GRCh38
NC_000010.10:g.55566464A>G , CM000672.1:g.55566464A>G	GRCh37
NC_000010.9:g.55236470A>G	NCBI36
NG_009191.2:g.999588T>C
NG_009191.3:g.1827479T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.3957T>C
ENST00000644397.2:c.5098T>C MANE Select	ENSP00000495195.1:p.Ser1700Pro
ENST00000373965.6:c.4909T>C	ENSP00000363076.3:p.Ser1637Pro
ENST00000414778.5:c.4906T>C	ENSP00000410304.2:p.Ser1636Pro
ENST00000495484.5:c.1126T>C	ENSP00000480780.1:p.Ser376Pro
ENST00000614895.4:c.4921T>C	ENSP00000478512.1:p.Ser1641Pro
ENST00000616114.4:c.4903T>C	ENSP00000483745.1:p.Ser1635Pro
ENST00000618301.4:c.1258T>C	ENSP00000482780.1:p.Ser420Pro
ENST00000621708.4:c.4924T>C	ENSP00000484454.1:p.Ser1642Pro
NM_001142771.1:c.4924T>C	NP_001136243.1:p.Ser1642Pro
NM_001142772.1:c.4909T>C	NP_001136244.1:p.Ser1637Pro
NM_001354420.1:c.4903T>C	NP_001341349.1:p.Ser1635Pro
NM_001354429.1:c.5032T>C	NP_001341358.1:p.Ser1678Pro
XR_001747192.2:n.11390T>C
XR_001747193.2:n.11381T>C
NM_001142771.2:c.4924T>C	NP_001136243.1:p.Ser1642Pro
NM_001142772.2:c.4909T>C	NP_001136244.1:p.Ser1637Pro
NM_001354420.2:c.4903T>C	NP_001341349.1:p.Ser1635Pro
NM_001354429.2:c.5032T>C	NP_001341358.1:p.Ser1678Pro
NM_001384140.1:c.5098T>C MANE Select	NP_001371069.1:p.Ser1700Pro