Canonical Allele Identifier: CA1725928458

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491410T= , CM000669.2:g.92491410T=	GRCh38
NC_000007.13:g.92120724T= , CM000669.1:g.92120724T=	GRCh37
NC_000007.12:g.91958660T=	NCBI36
NG_008341.1:g.42122A=
NG_008341.2:g.42122A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3300A= (PEX1) MANE Select	ENSP00000248633.4:p.Gly1100=
ENST00000248633.8:c.3300A= (PEX1)	ENSP00000248633.4:p.Gly1100=
ENST00000428214.5:c.3129A= (PEX1)	ENSP00000394413.1:p.Gly1043=
ENST00000438045.5:c.2334A= (PEX1)	ENSP00000410438.1:p.Gly778=
ENST00000484913.5:n.3339A= (PEX1)
ENST00000496420.5:n.4355A= (PEX1)
NM_000466.2:c.3300A= (PEX1)	NP_000457.1:p.Gly1100=
NM_001282677.1:c.3129A= (PEX1)	NP_001269606.1:p.Gly1043=
NM_001282678.1:c.2676A= (PEX1)	NP_001269607.1:p.Gly892=
XM_005250433.3:c.1551A= (PEX1)	XP_005250490.1:p.Gly517=
XR_242246.3:n.3396A= (PEX1)
XM_017012319.2:c.1551A= (PEX1)	XP_016867808.1:p.Gly517=
XR_001744808.2:n.2327A= (PEX1)
XR_001744842.2:n.2448T= (GATAD1)
XR_001744843.2:n.2379T= (GATAD1)
XR_002956472.1:n.2505T= (GATAD1)
XR_002956473.1:n.2536T= (GATAD1)
XR_002956474.1:n.2453T= (GATAD1)
XR_242246.5:n.3347A= (PEX1)
XR_927494.3:n.1230T= (GATAD1)
XR_927500.3:n.1227T= (GATAD1)
XR_927503.3:n.1161T= (GATAD1)
NM_000466.3:c.3300A= (PEX1) MANE Select	NP_000457.1:p.Gly1100=
NM_001282677.2:c.3129A= (PEX1)	NP_001269606.1:p.Gly1043=
NM_001282678.2:c.2676A= (PEX1)	NP_001269607.1:p.Gly892=