Canonical Allele Identifier: CA161954341

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92492994A>G , CM000669.2:g.92492994A>G	GRCh38
NC_000007.13:g.92122308A>G , CM000669.1:g.92122308A>G	GRCh37
NC_000007.12:g.91960244A>G	NCBI36
NG_008341.1:g.40538T>C
NG_008341.2:g.40538T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.3166T>C (PEX1) MANE Select	NP_000457.1:p.Leu1056=
ENST00000248633.9:c.3166T>C (PEX1) MANE Select	ENSP00000248633.4:p.Leu1056=
NM_000466.2:c.3166T>C (PEX1)	NP_000457.1:p.Leu1056=
NM_001282677.1:c.2995T>C (PEX1)	NP_001269606.1:p.Leu999=
NM_001282677.2:c.2995T>C (PEX1)	NP_001269606.1:p.Leu999=
NM_001282678.1:c.2542T>C (PEX1)	NP_001269607.1:p.Leu848=
NM_001282678.2:c.2542T>C (PEX1)	NP_001269607.1:p.Leu848=
ENST00000248633.8:c.3166T>C (PEX1)	ENSP00000248633.4:p.Leu1056=
ENST00000428214.5:c.2995T>C (PEX1)	ENSP00000394413.1:p.Leu999=
ENST00000438045.5:c.2200T>C (PEX1)	ENSP00000410438.1:p.Leu734=
ENST00000484913.5:n.3205T>C (PEX1)
ENST00000496420.5:n.4221T>C (PEX1)
XM_005250433.3:c.1417T>C (PEX1)	XP_005250490.1:p.Leu473=
XM_017012319.2:c.1417T>C (PEX1)	XP_016867808.1:p.Leu473=
XR_001744808.2:n.2193T>C (PEX1)
XR_001744842.2:n.4032A>G (GATAD1)
XR_001744843.2:n.3963A>G (GATAD1)
XR_002956472.1:n.4089A>G (GATAD1)
XR_002956473.1:n.4120A>G (GATAD1)
XR_002956474.1:n.4037A>G (GATAD1)
XR_242246.3:n.3262T>C (PEX1)
XR_242246.5:n.3213T>C (PEX1)
XR_927494.3:n.2814A>G (GATAD1)
XR_927500.3:n.2811A>G (GATAD1)
XR_927503.3:n.2745A>G (GATAD1)