Canonical Allele Identifier: CA380228888

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45915824G>A , CM000673.2:g.45915824G>A	GRCh38
NC_000011.9:g.45937375G>A , CM000673.1:g.45937375G>A	GRCh37
NC_000011.8:g.45893951G>A	NCBI36
NG_008460.1:g.7300C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.238C>T MANE Select	NP_004804.2:p.Gln80Ter
ENST00000378750.10:c.238C>T MANE Select	ENSP00000368024.5:p.Gln80Ter
NM_004813.2:c.238C>T	NP_004804.1:p.Gln80Ter
NM_004813.3:c.238C>T	NP_004804.1:p.Gln80Ter
NM_057174.2:c.238C>T	NP_476515.1:p.Gln80Ter
NM_057174.3:c.238C>T	NP_476515.2:p.Gln80Ter
ENST00000241041.7:c.238C>T	ENSP00000241041.3:p.Gln80Ter
ENST00000378750.9:c.238C>T	ENSP00000368024.5:p.Gln80Ter
ENST00000525192.5:c.-48C>T	ENSP00000431309.1:n.-48C>T
ENST00000525229.5:c.*191C>T	ENSP00000431132.1:n.*191C>T
ENST00000528674.5:c.*137C>T	ENSP00000434060.1:n.*137C>T
ENST00000529030.1:c.*223C>T	ENSP00000432486.1:n.*223C>T
ENST00000532554.5:n.131-256C>T
ENST00000532681.5:c.-48C>T	ENSP00000434654.1:n.-48C>T
ENST00000533151.5:c.149-1140C>T	ENSP00000433045.1:n.149-1140C>T
XM_011520474.1:c.115C>T	XP_011518776.1:p.Gln39Ter