Canonical Allele Identifier: CA1725931099

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494345A= , CM000669.2:g.92494345A=	GRCh38
NC_000007.13:g.92123659A= , CM000669.1:g.92123659A=	GRCh37
NC_000007.12:g.91961595A=	NCBI36
NG_008341.1:g.39187T=
NG_008341.2:g.39187T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2978T= (PEX1) MANE Select	ENSP00000248633.4:p.Leu993=
ENST00000248633.8:c.2978T= (PEX1)	ENSP00000248633.4:p.Leu993=
ENST00000428214.5:c.2807T= (PEX1)	ENSP00000394413.1:p.Leu936=
ENST00000438045.5:c.2012T= (PEX1)	ENSP00000410438.1:p.Leu671=
ENST00000484913.5:n.3017T= (PEX1)
ENST00000496420.5:n.2870T= (PEX1)
NM_000466.2:c.2978T= (PEX1)	NP_000457.1:p.Leu993=
NM_001282677.1:c.2807T= (PEX1)	NP_001269606.1:p.Leu936=
NM_001282678.1:c.2354T= (PEX1)	NP_001269607.1:p.Leu785=
XM_005250433.3:c.1229T= (PEX1)	XP_005250490.1:p.Leu410=
XR_242246.3:n.3074T= (PEX1)
XM_017012319.2:c.1229T= (PEX1)	XP_016867808.1:p.Leu410=
XR_001744808.2:n.2005T= (PEX1)
XR_001744843.2:n.5314A= (GATAD1)
XR_242246.5:n.3025T= (PEX1)
XR_927494.3:n.4165A= (GATAD1)
XR_927503.3:n.4096A= (GATAD1)
NM_000466.3:c.2978T= (PEX1) MANE Select	NP_000457.1:p.Leu993=
NM_001282677.2:c.2807T= (PEX1)	NP_001269606.1:p.Leu936=
NM_001282678.2:c.2354T= (PEX1)	NP_001269607.1:p.Leu785=