Canonical Allele Identifier: CA337990813

Gene: PEX10 PLCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2412500C>T , CM000663.2:g.2412500C>T	GRCh38
NC_000001.10:g.2343939C>T , CM000663.1:g.2343939C>T	GRCh37
NC_000001.9:g.2333799C>T	NCBI36
NG_008342.1:g.5072G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002617.4:c.3G>A (PEX10) MANE Select	NP_002608.1:p.Met1Ile
ENST00000447513.7:c.3G>A (PEX10) MANE Select	ENSP00000407922.2:p.Met1Ile
NM_001374425.1:c.3G>A (PEX10)	NP_001361354.1:p.Met1Ile
NM_001374426.1:c.-321+1097G>A (PEX10)	NP_001361355.1:n.-321+1097G>A
NM_001374427.1:c.-321+1097G>A (PEX10)	NP_001361356.1:n.-321+1097G>A
NM_002617.3:c.3G>A (PEX10)	NP_002608.1:p.Met1Ile
NM_153818.1:c.3G>A (PEX10)	NP_722540.1:p.Met1Ile
NM_153818.2:c.3G>A (PEX10)	NP_722540.1:p.Met1Ile
NR_164636.1:n.231+1097G>A (PEX10)
ENST00000288774.7:c.3G>A (PEX10)	ENSP00000288774.3:p.Met1Ile
ENST00000288774.8:c.3G>A (PEX10)	ENSP00000288774.3:p.Met1Ile
ENST00000447513.6:c.3G>A (PEX10)	ENSP00000407922.2:p.Met1Ile
ENST00000507596.5:c.3G>A (PEX10)	ENSP00000424291.1:p.Met1Ile
ENST00000508384.5:c.-321+1097G>A (PEX10)	ENSP00000464289.1:n.-321+1097G>A
ENST00000510434.1:c.3G>A (PEX10)	ENSP00000423051.1:p.Met1Ile
ENST00000514502.1:c.3G>A (PEX10)	ENSP00000425924.1:p.Met1Ile
XM_011541573.1:c.3G>A (PEX10)	XP_011539875.1:p.Met1Ile
XM_011541575.1:c.-321+1097G>A (PEX10)	XP_011539877.1:n.-321+1097G>A
XM_011541576.1:c.3G>A (PEX10)	XP_011539878.1:p.Met1Ile
XM_011541576.2:c.3G>A (PEX10)	XP_011539878.1:p.Met1Ile
XM_017002870.1:c.-1C>T (PLCH2)	XP_016858359.1:n.-1C>T
XM_017002872.1:c.-1C>T (PLCH2)	XP_016858361.1:n.-1C>T
XM_017002873.1:c.-1C>T (PLCH2)	XP_016858362.1:n.-1C>T
XM_017002874.1:c.-1C>T (PLCH2)	XP_016858363.1:n.-1C>T
XM_024451059.1:c.-1C>T (PLCH2)	XP_024306827.1:n.-1C>T
XM_024451062.1:c.-1C>T (PLCH2)	XP_024306830.1:n.-1C>T
XM_024451063.1:c.-1C>T (PLCH2)	XP_024306831.1:n.-1C>T
XM_024451064.1:c.-1C>T (PLCH2)	XP_024306832.1:n.-1C>T
XR_946666.1:n.123G>A (PEX10)
XR_946666.2:n.72G>A (PEX10)