Canonical Allele Identifier: CA538231

Gene: PEX10

Linked Data

• ClinVar Variation Id: 497782
• ClinVar RCV Id: RCV000593622 ; RCV001087511 ; RCV001095873 ; RCV001829641
• dbSNP Id: rs775772867
• ExAC: 1:2340223 G / A
• gnomAD v2: 1-2340223-G-A
• gnomAD v3: 1-2408784-G-A
• gnomAD v4: 1-2408784-G-A
• MyVariant Identifiers: chr1:g.2340223G>A (hg19) ; chr1:g.2408784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408784G>A , CM000663.2:g.2408784G>A	GRCh38
NC_000001.10:g.2340223G>A , CM000663.1:g.2340223G>A	GRCh37
NC_000001.9:g.2330083G>A	NCBI36
NG_008342.1:g.8788C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000288774.8:c.268C>T	ENSP00000288774.3:p.Leu90=
ENST00000447513.7:c.268C>T MANE Select	ENSP00000407922.2:p.Leu90=
ENST00000650293.1:c.222C>T
ENST00000288774.7:c.268C>T	ENSP00000288774.3:p.Leu90=
ENST00000447513.6:c.268C>T	ENSP00000407922.2:p.Leu90=
ENST00000502666.1:c.473C>T	ENSP00000461951.1:n.473C>T
ENST00000507596.5:c.268C>T	ENSP00000424291.1:p.Leu90=
ENST00000508384.5:c.-165C>T	ENSP00000464289.1:n.-165C>T
ENST00000510434.1:c.268C>T	ENSP00000423051.1:p.Leu90=
ENST00000514502.1:c.*285C>T	ENSP00000425924.1:n.*285C>T
ENST00000515760.1:n.402C>T
NM_002617.3:c.268C>T	NP_002608.1:p.Leu90=
NM_153818.1:c.268C>T	NP_722540.1:p.Leu90=
XM_011541573.1:c.268C>T	XP_011539875.1:p.Leu90=
XM_011541574.1:c.-165C>T	XP_011539876.1:n.-165C>T
XM_011541575.1:c.-165C>T	XP_011539877.1:n.-165C>T
XM_011541576.1:c.268C>T	XP_011539878.1:p.Leu90=
XR_946666.1:n.388C>T
XM_011541576.2:c.268C>T	XP_011539878.1:p.Leu90=
XR_946666.2:n.337C>T
NM_001374425.1:c.268C>T	NP_001361354.1:p.Leu90=
NM_001374426.1:c.-165C>T	NP_001361355.1:n.-165C>T
NM_001374427.1:c.-165C>T	NP_001361356.1:n.-165C>T
NM_002617.4:c.268C>T MANE Select	NP_002608.1:p.Leu90=
NM_153818.2:c.268C>T	NP_722540.1:p.Leu90=
NR_164636.1:n.387C>T