Canonical Allele Identifier: CA380223290

Gene: PEX16

Linked Data

• COSMIC: COSM4971169
• MyVariant Identifiers: chr11:g.45931829T>A (hg19) ; chr11:g.45910278T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910278T>A , CM000673.2:g.45910278T>A	GRCh38
NC_000011.9:g.45931829T>A , CM000673.1:g.45931829T>A	GRCh37
NC_000011.8:g.45888405T>A	NCBI36
NG_008460.1:g.12846A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.987A>T MANE Select	ENSP00000368024.5:p.Lys329Asn
ENST00000241041.7:c.953-101A>T	ENSP00000241041.3:n.953-101A>T
ENST00000378750.9:c.987A>T	ENSP00000368024.5:p.Lys329Asn
ENST00000523721.2:n.217A>T
ENST00000532681.5:c.702A>T	ENSP00000434654.1:p.Lys234Asn
NM_004813.2:c.987A>T	NP_004804.1:p.Lys329Asn
NM_057174.2:c.953-101A>T	NP_476515.1:n.953-101A>T
XM_011520474.1:c.864A>T	XP_011518776.1:p.Lys288Asn
NM_004813.3:c.987A>T	NP_004804.1:p.Lys329Asn
NM_004813.4:c.987A>T MANE Select	NP_004804.2:p.Lys329Asn
NM_057174.3:c.953-101A>T	NP_476515.2:n.953-101A>T