Canonical Allele Identifier: CA337987846

Gene: PEX10

Linked Data

• ClinVar Variation Id: 452215
• ClinVar RCV Id: RCV000520880 ; RCV001853676
• dbSNP Id: rs1184194956
• MyVariant Identifiers: chr1:g.2340055G>C (hg19) ; chr1:g.2408616G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408616G>C , CM000663.2:g.2408616G>C	GRCh38
NC_000001.10:g.2340055G>C , CM000663.1:g.2340055G>C	GRCh37
NC_000001.9:g.2329915G>C	NCBI36
NG_008342.1:g.8956C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.436C>G	ENSP00000288774.3:p.Arg146Gly
ENST00000447513.7:c.436C>G MANE Select	ENSP00000407922.2:p.Arg146Gly
ENST00000650293.1:c.390C>G
ENST00000288774.7:c.436C>G	ENSP00000288774.3:p.Arg146Gly
ENST00000447513.6:c.436C>G	ENSP00000407922.2:p.Arg146Gly
ENST00000502666.1:c.641C>G	ENSP00000461951.1:n.641C>G
ENST00000507596.5:c.436C>G	ENSP00000424291.1:p.Arg146Gly
ENST00000508384.5:c.4C>G	ENSP00000464289.1:p.Arg2Gly
ENST00000510434.1:c.436C>G	ENSP00000423051.1:p.Arg146Gly
ENST00000515760.1:n.570C>G
NM_002617.3:c.436C>G	NP_002608.1:p.Arg146Gly
NM_153818.1:c.436C>G	NP_722540.1:p.Arg146Gly
XM_011541573.1:c.436C>G	XP_011539875.1:p.Arg146Gly
XM_011541574.1:c.4C>G	XP_011539876.1:p.Arg2Gly
XM_011541575.1:c.4C>G	XP_011539877.1:p.Arg2Gly
XM_011541576.1:c.436C>G	XP_011539878.1:p.Arg146Gly
XR_946666.1:n.556C>G
XM_011541576.2:c.436C>G	XP_011539878.1:p.Arg146Gly
XR_946666.2:n.505C>G
NM_001374425.1:c.436C>G	NP_001361354.1:p.Arg146Gly
NM_001374426.1:c.4C>G	NP_001361355.1:p.Arg2Gly
NM_001374427.1:c.4C>G	NP_001361356.1:p.Arg2Gly
NM_002617.4:c.436C>G MANE Select	NP_002608.1:p.Arg146Gly
NM_153818.2:c.436C>G	NP_722540.1:p.Arg146Gly
NR_164636.1:n.555C>G