Canonical Allele Identifier: CA538158

Gene: PEX10

Linked Data

• ClinVar Variation Id: 498762
• ClinVar RCV Id: RCV000598421 ; RCV001867938 ; RCV002532430
• dbSNP Id: rs570706924
• ExAC: 1:2340007 G / A
• gnomAD v2: 1-2340007-G-A
• gnomAD v3: 1-2408568-G-A
• gnomAD v4: 1-2408568-G-A
• MyVariant Identifiers: chr1:g.2340007G>A (hg19) ; chr1:g.2408568G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408568G>A , CM000663.2:g.2408568G>A	GRCh38
NC_000001.10:g.2340007G>A , CM000663.1:g.2340007G>A	GRCh37
NC_000001.9:g.2329867G>A	NCBI36
NG_008342.1:g.9004C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.484C>T	ENSP00000288774.3:p.Arg162Trp
ENST00000447513.7:c.484C>T MANE Select	ENSP00000407922.2:p.Arg162Trp
ENST00000650293.1:c.438C>T
ENST00000288774.7:c.484C>T	ENSP00000288774.3:p.Arg162Trp
ENST00000447513.6:c.484C>T	ENSP00000407922.2:p.Arg162Trp
ENST00000507596.5:c.484C>T	ENSP00000424291.1:p.Arg162Trp
ENST00000508384.5:c.52C>T	ENSP00000464289.1:p.Arg18Trp
ENST00000510434.1:c.484C>T	ENSP00000423051.1:p.Arg162Trp
NM_002617.3:c.484C>T	NP_002608.1:p.Arg162Trp
NM_153818.1:c.484C>T	NP_722540.1:p.Arg162Trp
XM_011541573.1:c.484C>T	XP_011539875.1:p.Arg162Trp
XM_011541574.1:c.52C>T	XP_011539876.1:p.Arg18Trp
XM_011541575.1:c.52C>T	XP_011539877.1:p.Arg18Trp
XM_011541576.1:c.484C>T	XP_011539878.1:p.Arg162Trp
XR_946666.1:n.604C>T
XM_011541576.2:c.484C>T	XP_011539878.1:p.Arg162Trp
XR_946666.2:n.553C>T
NM_001374425.1:c.484C>T	NP_001361354.1:p.Arg162Trp
NM_001374426.1:c.52C>T	NP_001361355.1:p.Arg18Trp
NM_001374427.1:c.52C>T	NP_001361356.1:p.Arg18Trp
NM_002617.4:c.484C>T MANE Select	NP_002608.1:p.Arg162Trp
NM_153818.2:c.484C>T	NP_722540.1:p.Arg162Trp
NR_164636.1:n.603C>T