Canonical Allele Identifier: CA1725927057

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489788G= , CM000669.2:g.92489788G=	GRCh38
NC_000007.13:g.92119102G= , CM000669.1:g.92119102G=	GRCh37
NC_000007.12:g.91957038G=	NCBI36
NG_008341.1:g.43744C=
NG_008341.2:g.43744C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3562C= (PEX1) MANE Select	ENSP00000248633.4:p.Leu1188=
ENST00000248633.8:c.3562C= (PEX1)	ENSP00000248633.4:p.Leu1188=
ENST00000428214.5:c.3391C= (PEX1)	ENSP00000394413.1:p.Leu1131=
ENST00000438045.5:c.2596C= (PEX1)	ENSP00000410438.1:p.Leu866=
ENST00000469417.1:n.459C= (PEX1)
ENST00000477342.1:n.7C= (PEX1)
ENST00000484913.5:n.3601C= (PEX1)
ENST00000496420.5:n.4617C= (PEX1)
NM_000466.2:c.3562C= (PEX1)	NP_000457.1:p.Leu1188=
NM_001282677.1:c.3391C= (PEX1)	NP_001269606.1:p.Leu1131=
NM_001282678.1:c.2938C= (PEX1)	NP_001269607.1:p.Leu980=
XM_005250433.3:c.1813C= (PEX1)	XP_005250490.1:p.Leu605=
XR_242246.3:n.3658C= (PEX1)
XR_927494.1:n.1036-1455G= (GATAD1)
XR_927495.1:n.1036-298G= (GATAD1)
XR_927496.1:n.1041-1455G= (GATAD1)
XR_927497.1:n.1036-298G= (GATAD1)
XR_927498.1:n.1124-1455G= (GATAD1)
XR_927500.1:n.1033-1455G= (GATAD1)
XR_927502.1:n.1033-298G= (GATAD1)
XR_927503.1:n.967-1455G= (GATAD1)
XM_017012319.2:c.1813C= (PEX1)	XP_016867808.1:p.Leu605=
XR_001744808.2:n.2589C= (PEX1)
XR_001744842.2:n.2281-1455G= (GATAD1)
XR_001744843.2:n.2212-1455G= (GATAD1)
XR_002956472.1:n.2281-298G= (GATAD1)
XR_002956473.1:n.2369-1455G= (GATAD1)
XR_002956474.1:n.2286-1455G= (GATAD1)
XR_242246.5:n.3609C= (PEX1)
XR_927494.3:n.1063-1455G= (GATAD1)
XR_927500.3:n.1060-1455G= (GATAD1)
XR_927503.3:n.994-1455G= (GATAD1)
NM_000466.3:c.3562C= (PEX1) MANE Select	NP_000457.1:p.Leu1188=
NM_001282677.2:c.3391C= (PEX1)	NP_001269606.1:p.Leu1131=
NM_001282678.2:c.2938C= (PEX1)	NP_001269607.1:p.Leu980=