Canonical Allele Identifier: CA118503

Gene: PEX10

Linked Data

• ClinVar Variation Id: 6770
• ClinVar RCV Id: RCV000007172 ; RCV000519441 ; RCV000817369 ; RCV000983989 ; RCV001273137 ; RCV001174563 ; RCV002476939
• dbSNP Id: rs267608183
• ExAC: 1:2339890 C / T
• gnomAD v2: 1-2339890-C-T
• gnomAD v3: 1-2408451-C-T
• gnomAD v4: 1-2408451-C-T
• COSMIC: COSM6356993
• MyVariant Identifiers: chr1:g.2339890C>T (hg19) ; chr1:g.2408451C>T (hg38)
• PubMed: PMID:9683594

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408451C>T , CM000663.2:g.2408451C>T	GRCh38
NC_000001.10:g.2339890C>T , CM000663.1:g.2339890C>T	GRCh37
NC_000001.9:g.2329750C>T	NCBI36
NG_008342.1:g.9121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.600+1G>A	ENSP00000288774.3:n.600+1G>A
ENST00000447513.7:c.600+1G>A MANE Select	ENSP00000407922.2:n.600+1G>A
ENST00000650293.1:c.554+1G>A
ENST00000288774.7:c.600+1G>A	ENSP00000288774.3:n.600+1G>A
ENST00000447513.6:c.600+1G>A	ENSP00000407922.2:n.600+1G>A
ENST00000507596.5:c.600+1G>A	ENSP00000424291.1:n.600+1G>A
ENST00000510434.1:c.596+5G>A	ENSP00000423051.1:n.596+5G>A
NM_002617.3:c.600+1G>A	NP_002608.1:n.600+1G>A
NM_153818.1:c.600+1G>A	NP_722540.1:n.600+1G>A
XM_011541573.1:c.600+1G>A	XP_011539875.1:n.600+1G>A
XM_011541574.1:c.168+1G>A	XP_011539876.1:n.168+1G>A
XM_011541575.1:c.168+1G>A	XP_011539877.1:n.168+1G>A
XM_011541576.1:c.596+5G>A	XP_011539878.1:n.596+5G>A
XR_946666.1:n.716+5G>A
XM_011541576.2:c.596+5G>A	XP_011539878.1:n.596+5G>A
XR_946666.2:n.665+5G>A
NM_001374425.1:c.600+1G>A	NP_001361354.1:n.600+1G>A
NM_001374426.1:c.168+1G>A	NP_001361355.1:n.168+1G>A
NM_001374427.1:c.168+1G>A	NP_001361356.1:n.168+1G>A
NM_002617.4:c.600+1G>A MANE Select	NP_002608.1:n.600+1G>A
NM_153818.2:c.600+1G>A	NP_722540.1:n.600+1G>A
NR_164636.1:n.715+5G>A