Canonical Allele Identifier: CA415776218

Gene: PEX10

Linked Data

• ClinVar Variation Id: 500326
• ClinVar RCV Id: RCV000595757
• dbSNP Id: rs1553232160
• MyVariant Identifiers: chr1:g.2340143C>T (hg19) ; chr1:g.2408704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408704C>T , CM000663.2:g.2408704C>T	GRCh38
NC_000001.10:g.2340143C>T , CM000663.1:g.2340143C>T	GRCh37
NC_000001.9:g.2330003C>T	NCBI36
NG_008342.1:g.8868G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.348G>A	ENSP00000288774.3:p.Glu116=
ENST00000447513.7:c.348G>A MANE Select	ENSP00000407922.2:p.Glu116=
ENST00000650293.1:c.302G>A
ENST00000288774.7:c.348G>A	ENSP00000288774.3:p.Glu116=
ENST00000447513.6:c.348G>A	ENSP00000407922.2:p.Glu116=
ENST00000502666.1:c.553G>A	ENSP00000461951.1:n.553G>A
ENST00000507596.5:c.348G>A	ENSP00000424291.1:p.Glu116=
ENST00000508384.5:c.-85G>A	ENSP00000464289.1:n.-85G>A
ENST00000510434.1:c.348G>A	ENSP00000423051.1:p.Glu116=
ENST00000515760.1:n.482G>A
NM_002617.3:c.348G>A	NP_002608.1:p.Glu116=
NM_153818.1:c.348G>A	NP_722540.1:p.Glu116=
XM_011541573.1:c.348G>A	XP_011539875.1:p.Glu116=
XM_011541574.1:c.-85G>A	XP_011539876.1:n.-85G>A
XM_011541575.1:c.-85G>A	XP_011539877.1:n.-85G>A
XM_011541576.1:c.348G>A	XP_011539878.1:p.Glu116=
XR_946666.1:n.468G>A
XM_011541576.2:c.348G>A	XP_011539878.1:p.Glu116=
XR_946666.2:n.417G>A
NM_001374425.1:c.348G>A	NP_001361354.1:p.Glu116=
NM_001374426.1:c.-85G>A	NP_001361355.1:n.-85G>A
NM_001374427.1:c.-85G>A	NP_001361356.1:n.-85G>A
NM_002617.4:c.348G>A MANE Select	NP_002608.1:p.Glu116=
NM_153818.2:c.348G>A	NP_722540.1:p.Glu116=
NR_164636.1:n.467G>A