Canonical Allele Identifier: CA538006

Gene: PEX10

Linked Data

• ClinVar Variation Id: 289743
• ClinVar RCV Id: RCV000264178 ; RCV001087950 ; RCV001097466 ; RCV001833392
• dbSNP Id: rs144440263
• ExAC: 1:2338019 C / A
• gnomAD v2: 1-2338019-C-A
• gnomAD v3: 1-2406580-C-A
• gnomAD v4: 1-2406580-C-A
• MyVariant Identifiers: chr1:g.2338019C>A (hg19) ; chr1:g.2338019_2338021delinsAAG (hg19) ; chr1:g.2406580C>A (hg38) ; chr1:g.2406580_2406582delinsAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406580C>A , CM000663.2:g.2406580C>A	GRCh38
NC_000001.10:g.2338019C>A , CM000663.1:g.2338019C>A	GRCh37
NC_000001.9:g.2327879C>A	NCBI36
NG_008342.1:g.10992G>T
NG_016128.1:g.19806C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.876G>T	ENSP00000288774.3:p.Leu292=
ENST00000447513.7:c.816G>T MANE Select	ENSP00000407922.2:p.Leu272=
ENST00000650293.1:c.770G>T
ENST00000288774.7:c.876G>T	ENSP00000288774.3:p.Leu292=
ENST00000447513.6:c.816G>T	ENSP00000407922.2:p.Leu272=
ENST00000507596.5:c.816G>T	ENSP00000424291.1:p.Leu272=
ENST00000510434.1:c.*182G>T	ENSP00000423051.1:n.*182G>T
NM_002617.3:c.816G>T	NP_002608.1:p.Leu272=
NM_153818.1:c.876G>T	NP_722540.1:p.Leu292=
XM_011541573.1:c.873G>T	XP_011539875.1:p.Leu291=
XM_011541574.1:c.441G>T	XP_011539876.1:p.Leu147=
XM_011541575.1:c.441G>T	XP_011539877.1:p.Leu147=
XR_946666.1:n.932G>T
XR_946666.2:n.881G>T
NM_001374425.1:c.873G>T	NP_001361354.1:p.Leu291=
NM_001374426.1:c.441G>T	NP_001361355.1:p.Leu147=
NM_001374427.1:c.384G>T	NP_001361356.1:p.Leu128=
NM_002617.4:c.816G>T MANE Select	NP_002608.1:p.Leu272=
NM_153818.2:c.876G>T	NP_722540.1:p.Leu292=
NR_164636.1:n.931G>T