Canonical Allele Identifier: CA1725931012

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494293C= , CM000669.2:g.92494293C=	GRCh38
NC_000007.13:g.92123607C= , CM000669.1:g.92123607C=	GRCh37
NC_000007.12:g.91961543C=	NCBI36
NG_008341.1:g.39239G=
NG_008341.2:g.39239G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030G= (PEX1) MANE Select	ENSP00000248633.4:p.Gln1010=
ENST00000248633.8:c.3030G= (PEX1)	ENSP00000248633.4:p.Gln1010=
ENST00000428214.5:c.2859G= (PEX1)	ENSP00000394413.1:p.Gln953=
ENST00000438045.5:c.2064G= (PEX1)	ENSP00000410438.1:p.Gln688=
ENST00000484913.5:n.3069G= (PEX1)
ENST00000496420.5:n.2922G= (PEX1)
NM_000466.2:c.3030G= (PEX1)	NP_000457.1:p.Gln1010=
NM_001282677.1:c.2859G= (PEX1)	NP_001269606.1:p.Gln953=
NM_001282678.1:c.2406G= (PEX1)	NP_001269607.1:p.Gln802=
XM_005250433.3:c.1281G= (PEX1)	XP_005250490.1:p.Gln427=
XR_242246.3:n.3126G= (PEX1)
XM_017012319.2:c.1281G= (PEX1)	XP_016867808.1:p.Gln427=
XR_001744808.2:n.2057G= (PEX1)
XR_001744843.2:n.5262C= (GATAD1)
XR_242246.5:n.3077G= (PEX1)
XR_927494.3:n.4113C= (GATAD1)
XR_927503.3:n.4044C= (GATAD1)
NM_000466.3:c.3030G= (PEX1) MANE Select	NP_000457.1:p.Gln1010=
NM_001282677.2:c.2859G= (PEX1)	NP_001269606.1:p.Gln953=
NM_001282678.2:c.2406G= (PEX1)	NP_001269607.1:p.Gln802=