Canonical Allele Identifier: CA538212

Gene: PEX10

Linked Data

• ClinVar Variation Id: 262789
• ClinVar RCV Id: RCV000249703 ; RCV000366305 ; RCV001273139 ; RCV000960578 ; RCV001582890
• dbSNP Id: rs146452560
• ExAC: 1:2340173 C / T
• gnomAD v2: 1-2340173-C-T
• gnomAD v3: 1-2408734-C-T
• gnomAD v4: 1-2408734-C-T
• MyVariant Identifiers: chr1:g.2340173C>T (hg19) ; chr1:g.2408734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408734C>T , CM000663.2:g.2408734C>T	GRCh38
NC_000001.10:g.2340173C>T , CM000663.1:g.2340173C>T	GRCh37
NC_000001.9:g.2330033C>T	NCBI36
NG_008342.1:g.8838G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.318G>A	ENSP00000288774.3:p.Leu106=
ENST00000447513.7:c.318G>A MANE Select	ENSP00000407922.2:p.Leu106=
ENST00000650293.1:c.272G>A
ENST00000288774.7:c.318G>A	ENSP00000288774.3:p.Leu106=
ENST00000447513.6:c.318G>A	ENSP00000407922.2:p.Leu106=
ENST00000502666.1:c.523G>A	ENSP00000461951.1:n.523G>A
ENST00000507596.5:c.318G>A	ENSP00000424291.1:p.Leu106=
ENST00000508384.5:c.-115G>A	ENSP00000464289.1:n.-115G>A
ENST00000510434.1:c.318G>A	ENSP00000423051.1:p.Leu106=
ENST00000515760.1:n.452G>A
NM_002617.3:c.318G>A	NP_002608.1:p.Leu106=
NM_153818.1:c.318G>A	NP_722540.1:p.Leu106=
XM_011541573.1:c.318G>A	XP_011539875.1:p.Leu106=
XM_011541574.1:c.-115G>A	XP_011539876.1:n.-115G>A
XM_011541575.1:c.-115G>A	XP_011539877.1:n.-115G>A
XM_011541576.1:c.318G>A	XP_011539878.1:p.Leu106=
XR_946666.1:n.438G>A
XM_011541576.2:c.318G>A	XP_011539878.1:p.Leu106=
XR_946666.2:n.387G>A
NM_001374425.1:c.318G>A	NP_001361354.1:p.Leu106=
NM_001374426.1:c.-115G>A	NP_001361355.1:n.-115G>A
NM_001374427.1:c.-115G>A	NP_001361356.1:n.-115G>A
NM_002617.4:c.318G>A MANE Select	NP_002608.1:p.Leu106=
NM_153818.2:c.318G>A	NP_722540.1:p.Leu106=
NR_164636.1:n.437G>A