Canonical Allele Identifier: CA337988831

Gene: PEX10

Linked Data

• ClinVar Variation Id: 500164
• ClinVar RCV Id: RCV000592808 ; RCV002532505
• dbSNP Id: rs1214996893
• gnomAD v2: 1-2340217-G-A
• gnomAD v3: 1-2408778-G-A
• gnomAD v4: 1-2408778-G-A
• MyVariant Identifiers: chr1:g.2340217G>A (hg19) ; chr1:g.2408778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408778G>A , CM000663.2:g.2408778G>A	GRCh38
NC_000001.10:g.2340217G>A , CM000663.1:g.2340217G>A	GRCh37
NC_000001.9:g.2330077G>A	NCBI36
NG_008342.1:g.8794C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000288774.8:c.274C>T	ENSP00000288774.3:p.Arg92Cys
ENST00000447513.7:c.274C>T MANE Select	ENSP00000407922.2:p.Arg92Cys
ENST00000650293.1:c.228C>T
ENST00000288774.7:c.274C>T	ENSP00000288774.3:p.Arg92Cys
ENST00000447513.6:c.274C>T	ENSP00000407922.2:p.Arg92Cys
ENST00000502666.1:c.479C>T	ENSP00000461951.1:n.479C>T
ENST00000507596.5:c.274C>T	ENSP00000424291.1:p.Arg92Cys
ENST00000508384.5:c.-159C>T	ENSP00000464289.1:n.-159C>T
ENST00000510434.1:c.274C>T	ENSP00000423051.1:p.Arg92Cys
ENST00000514502.1:c.*291C>T	ENSP00000425924.1:n.*291C>T
ENST00000515760.1:n.408C>T
NM_002617.3:c.274C>T	NP_002608.1:p.Arg92Cys
NM_153818.1:c.274C>T	NP_722540.1:p.Arg92Cys
XM_011541573.1:c.274C>T	XP_011539875.1:p.Arg92Cys
XM_011541574.1:c.-159C>T	XP_011539876.1:n.-159C>T
XM_011541575.1:c.-159C>T	XP_011539877.1:n.-159C>T
XM_011541576.1:c.274C>T	XP_011539878.1:p.Arg92Cys
XR_946666.1:n.394C>T
XM_011541576.2:c.274C>T	XP_011539878.1:p.Arg92Cys
XR_946666.2:n.343C>T
NM_001374425.1:c.274C>T	NP_001361354.1:p.Arg92Cys
NM_001374426.1:c.-159C>T	NP_001361355.1:n.-159C>T
NM_001374427.1:c.-159C>T	NP_001361356.1:n.-159C>T
NM_002617.4:c.274C>T MANE Select	NP_002608.1:p.Arg92Cys
NM_153818.2:c.274C>T	NP_722540.1:p.Arg92Cys
NR_164636.1:n.393C>T