Canonical Allele Identifier: CA1725931161

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494379C= , CM000669.2:g.92494379C=	GRCh38
NC_000007.13:g.92123693C= , CM000669.1:g.92123693C=	GRCh37
NC_000007.12:g.91961629C=	NCBI36
NG_008341.1:g.39153G=
NG_008341.2:g.39153G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2944G= (PEX1) MANE Select	ENSP00000248633.4:p.Ala982=
ENST00000248633.8:c.2944G= (PEX1)	ENSP00000248633.4:p.Ala982=
ENST00000428214.5:c.2773G= (PEX1)	ENSP00000394413.1:p.Ala925=
ENST00000438045.5:c.1978G= (PEX1)	ENSP00000410438.1:p.Ala660=
ENST00000484913.5:n.2983G= (PEX1)
ENST00000496420.5:n.2836G= (PEX1)
NM_000466.2:c.2944G= (PEX1)	NP_000457.1:p.Ala982=
NM_001282677.1:c.2773G= (PEX1)	NP_001269606.1:p.Ala925=
NM_001282678.1:c.2320G= (PEX1)	NP_001269607.1:p.Ala774=
XM_005250433.3:c.1195G= (PEX1)	XP_005250490.1:p.Ala399=
XR_242246.3:n.3040G= (PEX1)
XM_017012319.2:c.1195G= (PEX1)	XP_016867808.1:p.Ala399=
XR_001744808.2:n.1971G= (PEX1)
XR_001744843.2:n.5348C= (GATAD1)
XR_242246.5:n.2991G= (PEX1)
XR_927494.3:n.4199C= (GATAD1)
XR_927503.3:n.4130C= (GATAD1)
NM_000466.3:c.2944G= (PEX1) MANE Select	NP_000457.1:p.Ala982=
NM_001282677.2:c.2773G= (PEX1)	NP_001269606.1:p.Ala925=
NM_001282678.2:c.2320G= (PEX1)	NP_001269607.1:p.Ala774=