Canonical Allele Identifier: CA380226751

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45914169C>T , CM000673.2:g.45914169C>T	GRCh38
NC_000011.9:g.45935720C>T , CM000673.1:g.45935720C>T	GRCh37
NC_000011.8:g.45892296C>T	NCBI36
NG_008460.1:g.8955G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.729G>A MANE Select	NP_004804.2:p.Trp243Ter
ENST00000378750.10:c.729G>A MANE Select	ENSP00000368024.5:p.Trp243Ter
NM_004813.2:c.729G>A	NP_004804.1:p.Trp243Ter
NM_004813.3:c.729G>A	NP_004804.1:p.Trp243Ter
NM_057174.2:c.729G>A	NP_476515.1:p.Trp243Ter
NM_057174.3:c.729G>A	NP_476515.2:p.Trp243Ter
ENST00000241041.7:c.729G>A	ENSP00000241041.3:p.Trp243Ter
ENST00000378750.9:c.729G>A	ENSP00000368024.5:p.Trp243Ter
ENST00000525192.5:c.444G>A	ENSP00000431309.1:p.Trp148Ter
ENST00000532554.5:n.500G>A
ENST00000532681.5:c.444G>A	ENSP00000434654.1:p.Trp148Ter
ENST00000533151.5:c.417G>A	ENSP00000433045.1:p.Trp139Ter
XM_011520474.1:c.606G>A	XP_011518776.1:p.Trp202Ter