Canonical Allele Identifier: CA538232

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1145766
• ClinVar RCV Id: RCV001484803 ; RCV001826316
• dbSNP Id: rs746952615
• ExAC: 1:2340224 C / T
• gnomAD v2: 1-2340224-C-T
• gnomAD v3: 1-2408785-C-T
• gnomAD v4: 1-2408785-C-T
• COSMIC: COSM4713652
• MyVariant Identifiers: chr1:g.2340224C>T (hg19) ; chr1:g.2408785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408785C>T , CM000663.2:g.2408785C>T	GRCh38
NC_000001.10:g.2340224C>T , CM000663.1:g.2340224C>T	GRCh37
NC_000001.9:g.2330084C>T	NCBI36
NG_008342.1:g.8787G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.267G>A	ENSP00000288774.3:p.Ser89=
ENST00000447513.7:c.267G>A MANE Select	ENSP00000407922.2:p.Ser89=
ENST00000650293.1:c.221G>A
ENST00000288774.7:c.267G>A	ENSP00000288774.3:p.Ser89=
ENST00000447513.6:c.267G>A	ENSP00000407922.2:p.Ser89=
ENST00000502666.1:c.472G>A	ENSP00000461951.1:n.472G>A
ENST00000507596.5:c.267G>A	ENSP00000424291.1:p.Ser89=
ENST00000508384.5:c.-166G>A	ENSP00000464289.1:n.-166G>A
ENST00000510434.1:c.267G>A	ENSP00000423051.1:p.Ser89=
ENST00000514502.1:c.*284G>A	ENSP00000425924.1:n.*284G>A
ENST00000515760.1:n.401G>A
NM_002617.3:c.267G>A	NP_002608.1:p.Ser89=
NM_153818.1:c.267G>A	NP_722540.1:p.Ser89=
XM_011541573.1:c.267G>A	XP_011539875.1:p.Ser89=
XM_011541574.1:c.-166G>A	XP_011539876.1:n.-166G>A
XM_011541575.1:c.-166G>A	XP_011539877.1:n.-166G>A
XM_011541576.1:c.267G>A	XP_011539878.1:p.Ser89=
XR_946666.1:n.387G>A
XM_011541576.2:c.267G>A	XP_011539878.1:p.Ser89=
XR_946666.2:n.336G>A
NM_001374425.1:c.267G>A	NP_001361354.1:p.Ser89=
NM_001374426.1:c.-166G>A	NP_001361355.1:n.-166G>A
NM_001374427.1:c.-166G>A	NP_001361356.1:n.-166G>A
NM_002617.4:c.267G>A MANE Select	NP_002608.1:p.Ser89=
NM_153818.2:c.267G>A	NP_722540.1:p.Ser89=
NR_164636.1:n.386G>A