Canonical Allele Identifier: CA380223530

Gene: PEX16

Linked Data

• gnomAD v4: 11-45910307-G-A
• MyVariant Identifiers: chr11:g.45931858G>A (hg19) ; chr11:g.45910307G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910307G>A , CM000673.2:g.45910307G>A	GRCh38
NC_000011.9:g.45931858G>A , CM000673.1:g.45931858G>A	GRCh37
NC_000011.8:g.45888434G>A	NCBI36
NG_008460.1:g.12817C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.958C>T MANE Select	ENSP00000368024.5:p.Leu320Phe
ENST00000241041.7:c.953-130C>T	ENSP00000241041.3:n.953-130C>T
ENST00000378750.9:c.958C>T	ENSP00000368024.5:p.Leu320Phe
ENST00000523721.2:n.188C>T
ENST00000532681.5:c.673C>T	ENSP00000434654.1:p.Leu225Phe
NM_004813.2:c.958C>T	NP_004804.1:p.Leu320Phe
NM_057174.2:c.953-130C>T	NP_476515.1:n.953-130C>T
XM_011520474.1:c.835C>T	XP_011518776.1:p.Leu279Phe
NM_004813.3:c.958C>T	NP_004804.1:p.Leu320Phe
NM_004813.4:c.958C>T MANE Select	NP_004804.2:p.Leu320Phe
NM_057174.3:c.953-130C>T	NP_476515.2:n.953-130C>T