Canonical Allele Identifier: CA380223280

Gene: PEX16

Linked Data

• MyVariant Identifiers: chr11:g.45931828T>A (hg19) ; chr11:g.45910277T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910277T>A , CM000673.2:g.45910277T>A	GRCh38
NC_000011.9:g.45931828T>A , CM000673.1:g.45931828T>A	GRCh37
NC_000011.8:g.45888404T>A	NCBI36
NG_008460.1:g.12847A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.988A>T MANE Select	ENSP00000368024.5:p.Ile330Phe
ENST00000241041.7:c.953-100A>T	ENSP00000241041.3:n.953-100A>T
ENST00000378750.9:c.988A>T	ENSP00000368024.5:p.Ile330Phe
ENST00000523721.2:n.218A>T
ENST00000532681.5:c.703A>T	ENSP00000434654.1:p.Ile235Phe
NM_004813.2:c.988A>T	NP_004804.1:p.Ile330Phe
NM_057174.2:c.953-100A>T	NP_476515.1:n.953-100A>T
XM_011520474.1:c.865A>T	XP_011518776.1:p.Ile289Phe
NM_004813.3:c.988A>T	NP_004804.1:p.Ile330Phe
NM_004813.4:c.988A>T MANE Select	NP_004804.2:p.Ile330Phe
NM_057174.3:c.953-100A>T	NP_476515.2:n.953-100A>T