Canonical Allele Identifier: CA380223117

Gene: PEX16

Linked Data

• MyVariant Identifiers: chr11:g.45931809C>A (hg19) ; chr11:g.45910258C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910258C>A , CM000673.2:g.45910258C>A	GRCh38
NC_000011.9:g.45931809C>A , CM000673.1:g.45931809C>A	GRCh37
NC_000011.8:g.45888385C>A	NCBI36
NG_008460.1:g.12866G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.1007G>T MANE Select	ENSP00000368024.5:p.Gly336Val
ENST00000241041.7:c.953-81G>T	ENSP00000241041.3:n.953-81G>T
ENST00000378750.9:c.1007G>T	ENSP00000368024.5:p.Gly336Val
ENST00000523721.2:n.237G>T
ENST00000532681.5:c.722G>T	ENSP00000434654.1:p.Gly241Val
NM_004813.2:c.1007G>T	NP_004804.1:p.Gly336Val
NM_057174.2:c.953-81G>T	NP_476515.1:n.953-81G>T
XM_011520474.1:c.884G>T	XP_011518776.1:p.Gly295Val
NM_004813.3:c.1007G>T	NP_004804.1:p.Gly336Val
NM_004813.4:c.1007G>T MANE Select	NP_004804.2:p.Gly336Val
NM_057174.3:c.953-81G>T	NP_476515.2:n.953-81G>T