Canonical Allele Identifier: CA415776152

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2987760
• ClinVar RCV Id: RCV003841879
• dbSNP Id: rs1321969110
• gnomAD v3: 1-2408845-C-A
• gnomAD v4: 1-2408845-C-A
• MyVariant Identifiers: chr1:g.2340284C>A (hg19) ; chr1:g.2408845C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408845C>A , CM000663.2:g.2408845C>A	GRCh38
NC_000001.10:g.2340284C>A , CM000663.1:g.2340284C>A	GRCh37
NC_000001.9:g.2330144C>A	NCBI36
NG_008342.1:g.8727G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.207G>T	ENSP00000288774.3:p.Leu69=
ENST00000447513.7:c.207G>T MANE Select	ENSP00000407922.2:p.Leu69=
ENST00000650293.1:c.161G>T
ENST00000288774.7:c.207G>T	ENSP00000288774.3:p.Leu69=
ENST00000447513.6:c.207G>T	ENSP00000407922.2:p.Leu69=
ENST00000502666.1:c.412G>T	ENSP00000461951.1:n.412G>T
ENST00000507596.5:c.207G>T	ENSP00000424291.1:p.Leu69=
ENST00000508384.5:c.-226G>T	ENSP00000464289.1:n.-226G>T
ENST00000510434.1:c.207G>T	ENSP00000423051.1:p.Leu69=
ENST00000514502.1:c.*224G>T	ENSP00000425924.1:n.*224G>T
ENST00000515760.1:n.341G>T
NM_002617.3:c.207G>T	NP_002608.1:p.Leu69=
NM_153818.1:c.207G>T	NP_722540.1:p.Leu69=
XM_011541573.1:c.207G>T	XP_011539875.1:p.Leu69=
XM_011541574.1:c.-226G>T	XP_011539876.1:n.-226G>T
XM_011541575.1:c.-226G>T	XP_011539877.1:n.-226G>T
XM_011541576.1:c.207G>T	XP_011539878.1:p.Leu69=
XR_946666.1:n.327G>T
XM_011541576.2:c.207G>T	XP_011539878.1:p.Leu69=
XR_946666.2:n.276G>T
NM_001374425.1:c.207G>T	NP_001361354.1:p.Leu69=
NM_001374426.1:c.-226G>T	NP_001361355.1:n.-226G>T
NM_001374427.1:c.-226G>T	NP_001361356.1:n.-226G>T
NM_002617.4:c.207G>T MANE Select	NP_002608.1:p.Leu69=
NM_153818.2:c.207G>T	NP_722540.1:p.Leu69=
NR_164636.1:n.326G>T