Canonical Allele Identifier: CA456480603

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489789T>C , CM000669.2:g.92489789T>C	GRCh38
NC_000007.13:g.92119103T>C , CM000669.1:g.92119103T>C	GRCh37
NC_000007.12:g.91957039T>C	NCBI36
NG_008341.1:g.43743A>G
NG_008341.2:g.43743A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.3561A>G (PEX1) MANE Select	NP_000457.1:p.Glu1187=
ENST00000248633.9:c.3561A>G (PEX1) MANE Select	ENSP00000248633.4:p.Glu1187=
NM_000466.2:c.3561A>G (PEX1)	NP_000457.1:p.Glu1187=
NM_001282677.1:c.3390A>G (PEX1)	NP_001269606.1:p.Glu1130=
NM_001282677.2:c.3390A>G (PEX1)	NP_001269606.1:p.Glu1130=
NM_001282678.1:c.2937A>G (PEX1)	NP_001269607.1:p.Glu979=
NM_001282678.2:c.2937A>G (PEX1)	NP_001269607.1:p.Glu979=
ENST00000248633.8:c.3561A>G (PEX1)	ENSP00000248633.4:p.Glu1187=
ENST00000428214.5:c.3390A>G (PEX1)	ENSP00000394413.1:p.Glu1130=
ENST00000438045.5:c.2595A>G (PEX1)	ENSP00000410438.1:p.Glu865=
ENST00000469417.1:n.458A>G (PEX1)
ENST00000477342.1:n.6A>G (PEX1)
ENST00000484913.5:n.3600A>G (PEX1)
ENST00000496420.5:n.4616A>G (PEX1)
XM_005250433.3:c.1812A>G (PEX1)	XP_005250490.1:p.Glu604=
XM_017012319.2:c.1812A>G (PEX1)	XP_016867808.1:p.Glu604=
XR_001744808.2:n.2588A>G (PEX1)
XR_001744842.2:n.2281-1454T>C (GATAD1)
XR_001744843.2:n.2212-1454T>C (GATAD1)
XR_002956472.1:n.2281-297T>C (GATAD1)
XR_002956473.1:n.2369-1454T>C (GATAD1)
XR_002956474.1:n.2286-1454T>C (GATAD1)
XR_242246.3:n.3657A>G (PEX1)
XR_242246.5:n.3608A>G (PEX1)
XR_927494.1:n.1036-1454T>C (GATAD1)
XR_927494.3:n.1063-1454T>C (GATAD1)
XR_927495.1:n.1036-297T>C (GATAD1)
XR_927496.1:n.1041-1454T>C (GATAD1)
XR_927497.1:n.1036-297T>C (GATAD1)
XR_927498.1:n.1124-1454T>C (GATAD1)
XR_927500.1:n.1033-1454T>C (GATAD1)
XR_927500.3:n.1060-1454T>C (GATAD1)
XR_927502.1:n.1033-297T>C (GATAD1)
XR_927503.1:n.967-1454T>C (GATAD1)
XR_927503.3:n.994-1454T>C (GATAD1)