Canonical Allele Identifier: CA358253030

Gene: PCDH18

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.137528768G>A , CM000666.2:g.137528768G>A	GRCh38
NC_000004.11:g.138449922G>A , CM000666.1:g.138449922G>A	GRCh37
NC_000004.10:g.138669372G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_019035.5:c.2540C>T MANE Select	NP_061908.1:p.Pro847Leu
ENST00000344876.9:c.2540C>T MANE Select	ENSP00000355082.4:p.Pro847Leu
NM_001300828.1:c.2537C>T	NP_001287757.1:p.Pro846Leu
NM_001300828.2:c.2537C>T	NP_001287757.1:p.Pro846Leu
NM_019035.4:c.2540C>T	NP_061908.1:p.Pro847Leu
ENST00000344876.8:c.2540C>T	ENSP00000355082.4:p.Pro847Leu
ENST00000412923.6:c.2537C>T	ENSP00000390688.2:p.Pro846Leu
ENST00000507846.5:c.1877C>T	ENSP00000425903.1:p.Pro626Leu
ENST00000510305.5:c.173C>T	ENSP00000424269.1:p.Pro58Leu
ENST00000511115.5:c.80C>T	ENSP00000425647.1:p.Pro27Leu
ENST00000611581.1:c.80C>T	ENSP00000478176.1:p.Pro27Leu
ENST00000617302.1:n.784C>T
ENST00000620262.1:n.163C>T
XM_006714239.2:c.2540C>T	XP_006714302.1:p.Pro847Leu
XM_006714239.3:c.2540C>T	XP_006714302.1:p.Pro847Leu
XM_017008311.1:c.2537C>T	XP_016863800.1:p.Pro846Leu