Canonical Allele Identifier: CA376516028

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566461T>A (hg19) ; chr10:g.53806701T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806701T>A , CM000672.2:g.53806701T>A	GRCh38
NC_000010.10:g.55566461T>A , CM000672.1:g.55566461T>A	GRCh37
NC_000010.9:g.55236467T>A	NCBI36
NG_009191.2:g.999591A>T
NG_009191.3:g.1827482A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.3960A>T
ENST00000644397.2:c.5101A>T MANE Select	ENSP00000495195.1:p.Met1701Leu
ENST00000373965.6:c.4912A>T	ENSP00000363076.3:p.Met1638Leu
ENST00000414778.5:c.4909A>T	ENSP00000410304.2:p.Met1637Leu
ENST00000495484.5:c.1129A>T	ENSP00000480780.1:p.Met377Leu
ENST00000614895.4:c.4924A>T	ENSP00000478512.1:p.Met1642Leu
ENST00000616114.4:c.4906A>T	ENSP00000483745.1:p.Met1636Leu
ENST00000618301.4:c.1261A>T	ENSP00000482780.1:p.Met421Leu
ENST00000621708.4:c.4927A>T	ENSP00000484454.1:p.Met1643Leu
NM_001142771.1:c.4927A>T	NP_001136243.1:p.Met1643Leu
NM_001142772.1:c.4912A>T	NP_001136244.1:p.Met1638Leu
NM_001354420.1:c.4906A>T	NP_001341349.1:p.Met1636Leu
NM_001354429.1:c.5035A>T	NP_001341358.1:p.Met1679Leu
XR_001747192.2:n.11393A>T
XR_001747193.2:n.11384A>T
NM_001142771.2:c.4927A>T	NP_001136243.1:p.Met1643Leu
NM_001142772.2:c.4912A>T	NP_001136244.1:p.Met1638Leu
NM_001354420.2:c.4906A>T	NP_001341349.1:p.Met1636Leu
NM_001354429.2:c.5035A>T	NP_001341358.1:p.Met1679Leu
NM_001384140.1:c.5101A>T MANE Select	NP_001371069.1:p.Met1701Leu