Canonical Allele Identifier: CA376516058

Gene: PCDH15

Linked Data

• COSMIC: COSM1728938
• MyVariant Identifiers: chr10:g.55566469T>A (hg19) ; chr10:g.53806709T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806709T>A , CM000672.2:g.53806709T>A	GRCh38
NC_000010.10:g.55566469T>A , CM000672.1:g.55566469T>A	GRCh37
NC_000010.9:g.55236475T>A	NCBI36
NG_009191.2:g.999583A>T
NG_009191.3:g.1827474A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.3952A>T
ENST00000644397.2:c.5093A>T MANE Select	ENSP00000495195.1:p.Gln1698Leu
ENST00000373965.6:c.4904A>T	ENSP00000363076.3:p.Gln1635Leu
ENST00000414778.5:c.4901A>T	ENSP00000410304.2:p.Gln1634Leu
ENST00000495484.5:c.1121A>T	ENSP00000480780.1:p.Gln374Leu
ENST00000614895.4:c.4916A>T	ENSP00000478512.1:p.Gln1639Leu
ENST00000616114.4:c.4898A>T	ENSP00000483745.1:p.Gln1633Leu
ENST00000618301.4:c.1253A>T	ENSP00000482780.1:p.Gln418Leu
ENST00000621708.4:c.4919A>T	ENSP00000484454.1:p.Gln1640Leu
NM_001142771.1:c.4919A>T	NP_001136243.1:p.Gln1640Leu
NM_001142772.1:c.4904A>T	NP_001136244.1:p.Gln1635Leu
NM_001354420.1:c.4898A>T	NP_001341349.1:p.Gln1633Leu
NM_001354429.1:c.5027A>T	NP_001341358.1:p.Gln1676Leu
XR_001747192.2:n.11385A>T
XR_001747193.2:n.11376A>T
NM_001142771.2:c.4919A>T	NP_001136243.1:p.Gln1640Leu
NM_001142772.2:c.4904A>T	NP_001136244.1:p.Gln1635Leu
NM_001354420.2:c.4898A>T	NP_001341349.1:p.Gln1633Leu
NM_001354429.2:c.5027A>T	NP_001341358.1:p.Gln1676Leu
NM_001384140.1:c.5093A>T MANE Select	NP_001371069.1:p.Gln1698Leu