Canonical Allele Identifier: CA376516404

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566550A>G (hg19) ; chr10:g.53806790A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806790A>G , CM000672.2:g.53806790A>G	GRCh38
NC_000010.10:g.55566550A>G , CM000672.1:g.55566550A>G	GRCh37
NC_000010.9:g.55236556A>G	NCBI36
NG_009191.2:g.999502T>C
NG_009191.3:g.1827393T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3871T>C
ENST00000644397.2:c.5012T>C MANE Select	ENSP00000495195.1:p.Val1671Ala
ENST00000373965.6:c.4823T>C	ENSP00000363076.3:p.Val1608Ala
ENST00000414778.5:c.4820T>C	ENSP00000410304.2:p.Val1607Ala
ENST00000495484.5:c.1040T>C	ENSP00000480780.1:p.Val347Ala
ENST00000614895.4:c.4835T>C	ENSP00000478512.1:p.Val1612Ala
ENST00000616114.4:c.4817T>C	ENSP00000483745.1:p.Val1606Ala
ENST00000618301.4:c.1172T>C	ENSP00000482780.1:p.Val391Ala
ENST00000621708.4:c.4838T>C	ENSP00000484454.1:p.Val1613Ala
NM_001142771.1:c.4838T>C	NP_001136243.1:p.Val1613Ala
NM_001142772.1:c.4823T>C	NP_001136244.1:p.Val1608Ala
NM_001354420.1:c.4817T>C	NP_001341349.1:p.Val1606Ala
NM_001354429.1:c.4946T>C	NP_001341358.1:p.Val1649Ala
XR_001747192.2:n.11304T>C
XR_001747193.2:n.11295T>C
NM_001142771.2:c.4838T>C	NP_001136243.1:p.Val1613Ala
NM_001142772.2:c.4823T>C	NP_001136244.1:p.Val1608Ala
NM_001354420.2:c.4817T>C	NP_001341349.1:p.Val1606Ala
NM_001354429.2:c.4946T>C	NP_001341358.1:p.Val1649Ala
NM_001384140.1:c.5012T>C MANE Select	NP_001371069.1:p.Val1671Ala