Canonical Allele Identifier: CA368167101

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493123G>A , CM000669.2:g.92493123G>A	GRCh38
NC_000007.13:g.92122437G>A , CM000669.1:g.92122437G>A	GRCh37
NC_000007.12:g.91960373G>A	NCBI36
NG_008341.1:g.40409C>T
NG_008341.2:g.40409C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.3037C>T (PEX1) MANE Select	NP_000457.1:p.Arg1013Cys
ENST00000248633.9:c.3037C>T (PEX1) MANE Select	ENSP00000248633.4:p.Arg1013Cys
NM_000466.2:c.3037C>T (PEX1)	NP_000457.1:p.Arg1013Cys
NM_001282677.1:c.2866C>T (PEX1)	NP_001269606.1:p.Arg956Cys
NM_001282677.2:c.2866C>T (PEX1)	NP_001269606.1:p.Arg956Cys
NM_001282678.1:c.2413C>T (PEX1)	NP_001269607.1:p.Arg805Cys
NM_001282678.2:c.2413C>T (PEX1)	NP_001269607.1:p.Arg805Cys
ENST00000248633.8:c.3037C>T (PEX1)	ENSP00000248633.4:p.Arg1013Cys
ENST00000428214.5:c.2866C>T (PEX1)	ENSP00000394413.1:p.Arg956Cys
ENST00000438045.5:c.2071C>T (PEX1)	ENSP00000410438.1:p.Arg691Cys
ENST00000484913.5:n.3076C>T (PEX1)
ENST00000496420.5:n.4092C>T (PEX1)
XM_005250433.3:c.1288C>T (PEX1)	XP_005250490.1:p.Arg430Cys
XM_017012319.2:c.1288C>T (PEX1)	XP_016867808.1:p.Arg430Cys
XR_001744808.2:n.2064C>T (PEX1)
XR_001744842.2:n.4161G>A (GATAD1)
XR_001744843.2:n.4092G>A (GATAD1)
XR_002956472.1:n.4218G>A (GATAD1)
XR_002956473.1:n.4249G>A (GATAD1)
XR_002956474.1:n.4166G>A (GATAD1)
XR_242246.3:n.3133C>T (PEX1)
XR_242246.5:n.3084C>T (PEX1)
XR_927494.3:n.2943G>A (GATAD1)
XR_927500.3:n.2940G>A (GATAD1)
XR_927503.3:n.2874G>A (GATAD1)