Canonical Allele Identifier: CA1725931158

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494378G= , CM000669.2:g.92494378G=	GRCh38
NC_000007.13:g.92123692G= , CM000669.1:g.92123692G=	GRCh37
NC_000007.12:g.91961628G=	NCBI36
NG_008341.1:g.39154C=
NG_008341.2:g.39154C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2945C= (PEX1) MANE Select	ENSP00000248633.4:p.Ala982=
ENST00000248633.8:c.2945C= (PEX1)	ENSP00000248633.4:p.Ala982=
ENST00000428214.5:c.2774C= (PEX1)	ENSP00000394413.1:p.Ala925=
ENST00000438045.5:c.1979C= (PEX1)	ENSP00000410438.1:p.Ala660=
ENST00000484913.5:n.2984C= (PEX1)
ENST00000496420.5:n.2837C= (PEX1)
NM_000466.2:c.2945C= (PEX1)	NP_000457.1:p.Ala982=
NM_001282677.1:c.2774C= (PEX1)	NP_001269606.1:p.Ala925=
NM_001282678.1:c.2321C= (PEX1)	NP_001269607.1:p.Ala774=
XM_005250433.3:c.1196C= (PEX1)	XP_005250490.1:p.Ala399=
XR_242246.3:n.3041C= (PEX1)
XM_017012319.2:c.1196C= (PEX1)	XP_016867808.1:p.Ala399=
XR_001744808.2:n.1972C= (PEX1)
XR_001744843.2:n.5347G= (GATAD1)
XR_242246.5:n.2992C= (PEX1)
XR_927494.3:n.4198G= (GATAD1)
XR_927503.3:n.4129G= (GATAD1)
NM_000466.3:c.2945C= (PEX1) MANE Select	NP_000457.1:p.Ala982=
NM_001282677.2:c.2774C= (PEX1)	NP_001269606.1:p.Ala925=
NM_001282678.2:c.2321C= (PEX1)	NP_001269607.1:p.Ala774=