Canonical Allele Identifier: CA380228186

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45915477G>A , CM000673.2:g.45915477G>A	GRCh38
NC_000011.9:g.45937028G>A , CM000673.1:g.45937028G>A	GRCh37
NC_000011.8:g.45893604G>A	NCBI36
NG_008460.1:g.7647C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.451C>T MANE Select	NP_004804.2:p.Gln151Ter
ENST00000378750.10:c.451C>T MANE Select	ENSP00000368024.5:p.Gln151Ter
NM_004813.2:c.451C>T	NP_004804.1:p.Gln151Ter
NM_004813.3:c.451C>T	NP_004804.1:p.Gln151Ter
NM_057174.2:c.451C>T	NP_476515.1:p.Gln151Ter
NM_057174.3:c.451C>T	NP_476515.2:p.Gln151Ter
ENST00000241041.7:c.451C>T	ENSP00000241041.3:p.Gln151Ter
ENST00000378750.9:c.451C>T	ENSP00000368024.5:p.Gln151Ter
ENST00000525192.5:c.166C>T	ENSP00000431309.1:p.Gln56Ter
ENST00000525229.5:c.*404C>T	ENSP00000431132.1:n.*404C>T
ENST00000527371.1:n.67C>T
ENST00000532554.5:n.222C>T
ENST00000532681.5:c.166C>T	ENSP00000434654.1:p.Gln56Ter
ENST00000533151.5:c.149-793C>T	ENSP00000433045.1:n.149-793C>T
XM_011520474.1:c.328C>T	XP_011518776.1:p.Gln110Ter