Canonical Allele Identifier: CA380226817

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45914180G>A , CM000673.2:g.45914180G>A	GRCh38
NC_000011.9:g.45935731G>A , CM000673.1:g.45935731G>A	GRCh37
NC_000011.8:g.45892307G>A	NCBI36
NG_008460.1:g.8944C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.718C>T MANE Select	NP_004804.2:p.Gln240Ter
ENST00000378750.10:c.718C>T MANE Select	ENSP00000368024.5:p.Gln240Ter
NM_004813.2:c.718C>T	NP_004804.1:p.Gln240Ter
NM_004813.3:c.718C>T	NP_004804.1:p.Gln240Ter
NM_057174.2:c.718C>T	NP_476515.1:p.Gln240Ter
NM_057174.3:c.718C>T	NP_476515.2:p.Gln240Ter
ENST00000241041.7:c.718C>T	ENSP00000241041.3:p.Gln240Ter
ENST00000378750.9:c.718C>T	ENSP00000368024.5:p.Gln240Ter
ENST00000525192.5:c.433C>T	ENSP00000431309.1:p.Gln145Ter
ENST00000532554.5:n.489C>T
ENST00000532681.5:c.433C>T	ENSP00000434654.1:p.Gln145Ter
ENST00000533151.5:c.406C>T	ENSP00000433045.1:p.Gln136Ter
XM_011520474.1:c.595C>T	XP_011518776.1:p.Gln199Ter