Canonical Allele Identifier: CA337984182

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2094184
• ClinVar RCV Id: RCV002996990
• MyVariant Identifiers: chr1:g.2337953C>G (hg19) ; chr1:g.2406514C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406514C>G , CM000663.2:g.2406514C>G	GRCh38
NC_000001.10:g.2337953C>G , CM000663.1:g.2337953C>G	GRCh37
NC_000001.9:g.2327813C>G	NCBI36
NG_008342.1:g.11058G>C
NG_016128.1:g.19740C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.942G>C	ENSP00000288774.3:p.Trp314Cys
ENST00000447513.7:c.882G>C MANE Select	ENSP00000407922.2:p.Trp294Cys
ENST00000650293.1:c.836G>C
ENST00000288774.7:c.942G>C	ENSP00000288774.3:p.Trp314Cys
ENST00000447513.6:c.882G>C	ENSP00000407922.2:p.Trp294Cys
ENST00000507596.5:c.882G>C	ENSP00000424291.1:p.Trp294Cys
NM_002617.3:c.882G>C	NP_002608.1:p.Trp294Cys
NM_153818.1:c.942G>C	NP_722540.1:p.Trp314Cys
XM_011541573.1:c.939G>C	XP_011539875.1:p.Trp313Cys
XM_011541574.1:c.507G>C	XP_011539876.1:p.Trp169Cys
XM_011541575.1:c.507G>C	XP_011539877.1:p.Trp169Cys
XR_946666.1:n.998G>C
XR_946666.2:n.947G>C
NM_001374425.1:c.939G>C	NP_001361354.1:p.Trp313Cys
NM_001374426.1:c.507G>C	NP_001361355.1:p.Trp169Cys
NM_001374427.1:c.450G>C	NP_001361356.1:p.Trp150Cys
NM_002617.4:c.882G>C MANE Select	NP_002608.1:p.Trp294Cys
NM_153818.2:c.942G>C	NP_722540.1:p.Trp314Cys
NR_164636.1:n.997G>C