Canonical Allele Identifier: CA538242

Gene: PEX10

Linked Data

• ClinVar Variation Id: 555942
• ClinVar RCV Id: RCV000671863
• dbSNP Id: rs766966222
• ExAC: 1:2340258 T / C
• gnomAD v2: 1-2340258-T-C
• gnomAD v4: 1-2408819-T-C
• MyVariant Identifiers: chr1:g.2340258T>C (hg19) ; chr1:g.2408819T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408819T>C , CM000663.2:g.2408819T>C	GRCh38
NC_000001.10:g.2340258T>C , CM000663.1:g.2340258T>C	GRCh37
NC_000001.9:g.2330118T>C	NCBI36
NG_008342.1:g.8753A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.233A>G	ENSP00000288774.3:p.Gln78Arg
ENST00000447513.7:c.233A>G MANE Select	ENSP00000407922.2:p.Gln78Arg
ENST00000650293.1:c.187A>G
ENST00000288774.7:c.233A>G	ENSP00000288774.3:p.Gln78Arg
ENST00000447513.6:c.233A>G	ENSP00000407922.2:p.Gln78Arg
ENST00000502666.1:c.438A>G	ENSP00000461951.1:n.438A>G
ENST00000507596.5:c.233A>G	ENSP00000424291.1:p.Gln78Arg
ENST00000508384.5:c.-200A>G	ENSP00000464289.1:n.-200A>G
ENST00000510434.1:c.233A>G	ENSP00000423051.1:p.Gln78Arg
ENST00000514502.1:c.*250A>G	ENSP00000425924.1:n.*250A>G
ENST00000515760.1:n.367A>G
NM_002617.3:c.233A>G	NP_002608.1:p.Gln78Arg
NM_153818.1:c.233A>G	NP_722540.1:p.Gln78Arg
XM_011541573.1:c.233A>G	XP_011539875.1:p.Gln78Arg
XM_011541574.1:c.-200A>G	XP_011539876.1:n.-200A>G
XM_011541575.1:c.-200A>G	XP_011539877.1:n.-200A>G
XM_011541576.1:c.233A>G	XP_011539878.1:p.Gln78Arg
XR_946666.1:n.353A>G
XM_011541576.2:c.233A>G	XP_011539878.1:p.Gln78Arg
XR_946666.2:n.302A>G
NM_001374425.1:c.233A>G	NP_001361354.1:p.Gln78Arg
NM_001374426.1:c.-200A>G	NP_001361355.1:n.-200A>G
NM_001374427.1:c.-200A>G	NP_001361356.1:n.-200A>G
NM_002617.4:c.233A>G MANE Select	NP_002608.1:p.Gln78Arg
NM_153818.2:c.233A>G	NP_722540.1:p.Gln78Arg
NR_164636.1:n.352A>G