Canonical Allele Identifier: CA16040725

Gene: PEX10

Linked Data

• ClinVar Variation Id: 371748
• ClinVar RCV Id: RCV000410037 ; RCV000411504 ; RCV001290646 ; RCV002523888
• dbSNP Id: rs369965266
• gnomAD v4: 1-2408700-G-A
• MyVariant Identifiers: chr1:g.2340139G>A (hg19) ; chr1:g.2408700G>A (hg38)
• PubMed: PMID:10862081 ; PMID:21031596 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408700G>A , CM000663.2:g.2408700G>A	GRCh38
NC_000001.10:g.2340139G>A , CM000663.1:g.2340139G>A	GRCh37
NC_000001.9:g.2329999G>A	NCBI36
NG_008342.1:g.8872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.352C>T	ENSP00000288774.3:p.Gln118Ter
ENST00000447513.7:c.352C>T MANE Select	ENSP00000407922.2:p.Gln118Ter
ENST00000650293.1:c.306C>T
ENST00000288774.7:c.352C>T	ENSP00000288774.3:p.Gln118Ter
ENST00000447513.6:c.352C>T	ENSP00000407922.2:p.Gln118Ter
ENST00000502666.1:c.557C>T	ENSP00000461951.1:n.557C>T
ENST00000507596.5:c.352C>T	ENSP00000424291.1:p.Gln118Ter
ENST00000508384.5:c.-81C>T	ENSP00000464289.1:n.-81C>T
ENST00000510434.1:c.352C>T	ENSP00000423051.1:p.Gln118Ter
ENST00000515760.1:n.486C>T
NM_002617.3:c.352C>T	NP_002608.1:p.Gln118Ter
NM_153818.1:c.352C>T	NP_722540.1:p.Gln118Ter
XM_011541573.1:c.352C>T	XP_011539875.1:p.Gln118Ter
XM_011541574.1:c.-81C>T	XP_011539876.1:n.-81C>T
XM_011541575.1:c.-81C>T	XP_011539877.1:n.-81C>T
XM_011541576.1:c.352C>T	XP_011539878.1:p.Gln118Ter
XR_946666.1:n.472C>T
XM_011541576.2:c.352C>T	XP_011539878.1:p.Gln118Ter
XR_946666.2:n.421C>T
NM_001374425.1:c.352C>T	NP_001361354.1:p.Gln118Ter
NM_001374426.1:c.-81C>T	NP_001361355.1:n.-81C>T
NM_001374427.1:c.-81C>T	NP_001361356.1:n.-81C>T
NM_002617.4:c.352C>T MANE Select	NP_002608.1:p.Gln118Ter
NM_153818.2:c.352C>T	NP_722540.1:p.Gln118Ter
NR_164636.1:n.471C>T