Canonical Allele Identifier: CA376515765

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566383T>A (hg19) ; chr10:g.53806623T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806623T>A , CM000672.2:g.53806623T>A	GRCh38
NC_000010.10:g.55566383T>A , CM000672.1:g.55566383T>A	GRCh37
NC_000010.9:g.55236389T>A	NCBI36
NG_009191.2:g.999669A>T
NG_009191.3:g.1827560A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4038A>T
ENST00000644397.2:c.5179A>T MANE Select	ENSP00000495195.1:p.Met1727Leu
ENST00000373965.6:c.4990A>T	ENSP00000363076.3:p.Met1664Leu
ENST00000414778.5:c.4987A>T	ENSP00000410304.2:p.Met1663Leu
ENST00000495484.5:c.1207A>T	ENSP00000480780.1:p.Met403Leu
ENST00000614895.4:c.5002A>T	ENSP00000478512.1:p.Met1668Leu
ENST00000616114.4:c.4984A>T	ENSP00000483745.1:p.Met1662Leu
ENST00000618301.4:c.1339A>T	ENSP00000482780.1:p.Met447Leu
ENST00000621708.4:c.5005A>T	ENSP00000484454.1:p.Met1669Leu
NM_001142771.1:c.5005A>T	NP_001136243.1:p.Met1669Leu
NM_001142772.1:c.4990A>T	NP_001136244.1:p.Met1664Leu
NM_001354420.1:c.4984A>T	NP_001341349.1:p.Met1662Leu
NM_001354429.1:c.5113A>T	NP_001341358.1:p.Met1705Leu
XR_001747192.2:n.11471A>T
XR_001747193.2:n.11462A>T
NM_001142771.2:c.5005A>T	NP_001136243.1:p.Met1669Leu
NM_001142772.2:c.4990A>T	NP_001136244.1:p.Met1664Leu
NM_001354420.2:c.4984A>T	NP_001341349.1:p.Met1662Leu
NM_001354429.2:c.5113A>T	NP_001341358.1:p.Met1705Leu
NM_001384140.1:c.5179A>T MANE Select	NP_001371069.1:p.Met1727Leu