Canonical Allele Identifier: CA337988850

Gene: PEX10

Linked Data

• dbSNP Id: rs2100429899
• gnomAD v4: 1-2408783-A-C
• MyVariant Identifiers: chr1:g.2340222A>C (hg19) ; chr1:g.2408783A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408783A>C , CM000663.2:g.2408783A>C	GRCh38
NC_000001.10:g.2340222A>C , CM000663.1:g.2340222A>C	GRCh37
NC_000001.9:g.2330082A>C	NCBI36
NG_008342.1:g.8789T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000288774.8:c.269T>G	ENSP00000288774.3:p.Leu90Arg
ENST00000447513.7:c.269T>G MANE Select	ENSP00000407922.2:p.Leu90Arg
ENST00000650293.1:c.223T>G
ENST00000288774.7:c.269T>G	ENSP00000288774.3:p.Leu90Arg
ENST00000447513.6:c.269T>G	ENSP00000407922.2:p.Leu90Arg
ENST00000502666.1:c.474T>G	ENSP00000461951.1:n.474T>G
ENST00000507596.5:c.269T>G	ENSP00000424291.1:p.Leu90Arg
ENST00000508384.5:c.-164T>G	ENSP00000464289.1:n.-164T>G
ENST00000510434.1:c.269T>G	ENSP00000423051.1:p.Leu90Arg
ENST00000514502.1:c.*286T>G	ENSP00000425924.1:n.*286T>G
ENST00000515760.1:n.403T>G
NM_002617.3:c.269T>G	NP_002608.1:p.Leu90Arg
NM_153818.1:c.269T>G	NP_722540.1:p.Leu90Arg
XM_011541573.1:c.269T>G	XP_011539875.1:p.Leu90Arg
XM_011541574.1:c.-164T>G	XP_011539876.1:n.-164T>G
XM_011541575.1:c.-164T>G	XP_011539877.1:n.-164T>G
XM_011541576.1:c.269T>G	XP_011539878.1:p.Leu90Arg
XR_946666.1:n.389T>G
XM_011541576.2:c.269T>G	XP_011539878.1:p.Leu90Arg
XR_946666.2:n.338T>G
NM_001374425.1:c.269T>G	NP_001361354.1:p.Leu90Arg
NM_001374426.1:c.-164T>G	NP_001361355.1:n.-164T>G
NM_001374427.1:c.-164T>G	NP_001361356.1:n.-164T>G
NM_002617.4:c.269T>G MANE Select	NP_002608.1:p.Leu90Arg
NM_153818.2:c.269T>G	NP_722540.1:p.Leu90Arg
NR_164636.1:n.388T>G