Canonical Allele Identifier: CA4340717

Gene: PEX1 GATAD1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92487485C>T , CM000669.2:g.92487485C>T	GRCh38
NC_000007.13:g.92116799C>T , CM000669.1:g.92116799C>T	GRCh37
NC_000007.12:g.91954735C>T	NCBI36
NG_008341.1:g.46047G>A
NG_008341.2:g.46047G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3824G>A (PEX1) MANE Select	ENSP00000248633.4:p.Arg1275Gln
ENST00000248633.8:c.3824G>A (PEX1)	ENSP00000248633.4:p.Arg1275Gln
ENST00000428214.5:c.3653G>A (PEX1)	ENSP00000394413.1:p.Arg1218Gln
ENST00000438045.5:c.2858G>A (PEX1)	ENSP00000410438.1:p.Arg953Gln
ENST00000477342.1:n.559G>A (PEX1)
ENST00000484913.5:n.3863G>A (PEX1)
ENST00000496420.5:n.4874G>A (PEX1)
NM_000466.2:c.3824G>A (PEX1)	NP_000457.1:p.Arg1275Gln
NM_001282677.1:c.3653G>A (PEX1)	NP_001269606.1:p.Arg1218Gln
NM_001282678.1:c.3200G>A (PEX1)	NP_001269607.1:p.Arg1067Gln
XM_005250433.3:c.2075G>A (PEX1)	XP_005250490.1:p.Arg692Gln
XR_242246.3:n.3915G>A (PEX1)
XR_927494.1:n.1036-3758C>T (GATAD1)
XR_927495.1:n.1036-2601C>T (GATAD1)
XR_927496.1:n.1041-3758C>T (GATAD1)
XR_927497.1:n.1036-2601C>T (GATAD1)
XR_927498.1:n.1124-3758C>T (GATAD1)
XR_927500.1:n.1033-3758C>T (GATAD1)
XR_927502.1:n.1033-2601C>T (GATAD1)
XR_927503.1:n.967-3758C>T (GATAD1)
XM_017012319.2:c.2075G>A (PEX1)	XP_016867808.1:p.Arg692Gln
XR_001744808.2:n.2846G>A (PEX1)
XR_001744842.2:n.2281-3758C>T (GATAD1)
XR_001744843.2:n.2212-3758C>T (GATAD1)
XR_002956472.1:n.2281-2601C>T (GATAD1)
XR_002956473.1:n.2369-3758C>T (GATAD1)
XR_002956474.1:n.2286-3758C>T (GATAD1)
XR_242246.5:n.3866G>A (PEX1)
XR_927494.3:n.1063-3758C>T (GATAD1)
XR_927500.3:n.1060-3758C>T (GATAD1)
XR_927503.3:n.994-3758C>T (GATAD1)
NM_000466.3:c.3824G>A (PEX1) MANE Select	NP_000457.1:p.Arg1275Gln
NM_001282677.2:c.3653G>A (PEX1)	NP_001269606.1:p.Arg1218Gln
NM_001282678.2:c.3200G>A (PEX1)	NP_001269607.1:p.Arg1067Gln