Canonical Allele Identifier: CA5960014

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45915716C>T , CM000673.2:g.45915716C>T	GRCh38
NC_000011.9:g.45937267C>T , CM000673.1:g.45937267C>T	GRCh37
NC_000011.8:g.45893843C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.346G>A MANE Select	NP_004804.2:p.Val116Ile
ENST00000378750.10:c.346G>A MANE Select	ENSP00000368024.5:p.Val116Ile
NM_057174.3:c.346G>A	NP_476515.2:p.Val116Ile
ENST00000241041.7:c.346G>A	ENSP00000241041.3:p.Val116Ile
ENST00000378750.9:c.346G>A	ENSP00000368024.5:p.Val116Ile
ENST00000525192.5:c.61G>A	ENSP00000431309.1:p.Val21Ile
ENST00000525229.5:c.*299G>A	ENSP00000431132.1:n.*299G>A
ENST00000528674.5:c.*245G>A	ENSP00000434060.1:n.*245G>A
ENST00000529030.1:c.*331G>A	ENSP00000432486.1:n.*331G>A
ENST00000532554.5:n.131-148G>A
ENST00000532681.5:c.61G>A	ENSP00000434654.1:p.Val21Ile
ENST00000533151.5:c.149-1032G>A	ENSP00000433045.1:n.149-1032G>A
XM_011520474.1:c.223G>A	XP_011518776.1:p.Val75Ile