Canonical Allele Identifier: CA337989135

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2677652
• ClinVar RCV Id: RCV003476786
• gnomAD v4: 1-2408852-T-C
• MyVariant Identifiers: chr1:g.2340291T>C (hg19) ; chr1:g.2408852T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408852T>C , CM000663.2:g.2408852T>C	GRCh38
NC_000001.10:g.2340291T>C , CM000663.1:g.2340291T>C	GRCh37
NC_000001.9:g.2330151T>C	NCBI36
NG_008342.1:g.8720A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.200A>G	ENSP00000288774.3:p.Gln67Arg
ENST00000447513.7:c.200A>G MANE Select	ENSP00000407922.2:p.Gln67Arg
ENST00000650293.1:c.154A>G
ENST00000288774.7:c.200A>G	ENSP00000288774.3:p.Gln67Arg
ENST00000447513.6:c.200A>G	ENSP00000407922.2:p.Gln67Arg
ENST00000502666.1:c.405A>G	ENSP00000461951.1:n.405A>G
ENST00000507596.5:c.200A>G	ENSP00000424291.1:p.Gln67Arg
ENST00000508384.5:c.-233A>G	ENSP00000464289.1:n.-233A>G
ENST00000510434.1:c.200A>G	ENSP00000423051.1:p.Gln67Arg
ENST00000514502.1:c.*217A>G	ENSP00000425924.1:n.*217A>G
ENST00000515760.1:n.334A>G
NM_002617.3:c.200A>G	NP_002608.1:p.Gln67Arg
NM_153818.1:c.200A>G	NP_722540.1:p.Gln67Arg
XM_011541573.1:c.200A>G	XP_011539875.1:p.Gln67Arg
XM_011541574.1:c.-233A>G	XP_011539876.1:n.-233A>G
XM_011541575.1:c.-233A>G	XP_011539877.1:n.-233A>G
XM_011541576.1:c.200A>G	XP_011539878.1:p.Gln67Arg
XR_946666.1:n.320A>G
XM_011541576.2:c.200A>G	XP_011539878.1:p.Gln67Arg
XR_946666.2:n.269A>G
NM_001374425.1:c.200A>G	NP_001361354.1:p.Gln67Arg
NM_001374426.1:c.-233A>G	NP_001361355.1:n.-233A>G
NM_001374427.1:c.-233A>G	NP_001361356.1:n.-233A>G
NM_002617.4:c.200A>G MANE Select	NP_002608.1:p.Gln67Arg
NM_153818.2:c.200A>G	NP_722540.1:p.Gln67Arg
NR_164636.1:n.319A>G