Canonical Allele Identifier: CA380223129

Gene: PEX16

Linked Data

• MyVariant Identifiers: chr11:g.45931811C>G (hg19) ; chr11:g.45910260C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910260C>G , CM000673.2:g.45910260C>G	GRCh38
NC_000011.9:g.45931811C>G , CM000673.1:g.45931811C>G	GRCh37
NC_000011.8:g.45888387C>G	NCBI36
NG_008460.1:g.12864G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.1005G>C MANE Select	ENSP00000368024.5:p.Trp335Cys
ENST00000241041.7:c.953-83G>C	ENSP00000241041.3:n.953-83G>C
ENST00000378750.9:c.1005G>C	ENSP00000368024.5:p.Trp335Cys
ENST00000523721.2:n.235G>C
ENST00000532681.5:c.720G>C	ENSP00000434654.1:p.Trp240Cys
NM_004813.2:c.1005G>C	NP_004804.1:p.Trp335Cys
NM_057174.2:c.953-83G>C	NP_476515.1:n.953-83G>C
XM_011520474.1:c.882G>C	XP_011518776.1:p.Trp294Cys
NM_004813.3:c.1005G>C	NP_004804.1:p.Trp335Cys
NM_004813.4:c.1005G>C MANE Select	NP_004804.2:p.Trp335Cys
NM_057174.3:c.953-83G>C	NP_476515.2:n.953-83G>C