Canonical Allele Identifier: CA368167097

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493122C>G , CM000669.2:g.92493122C>G	GRCh38
NC_000007.13:g.92122436C>G , CM000669.1:g.92122436C>G	GRCh37
NC_000007.12:g.91960372C>G	NCBI36
NG_008341.1:g.40410G>C
NG_008341.2:g.40410G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.3038G>C (PEX1) MANE Select	NP_000457.1:p.Arg1013Pro
ENST00000248633.9:c.3038G>C (PEX1) MANE Select	ENSP00000248633.4:p.Arg1013Pro
NM_000466.2:c.3038G>C (PEX1)	NP_000457.1:p.Arg1013Pro
NM_001282677.1:c.2867G>C (PEX1)	NP_001269606.1:p.Arg956Pro
NM_001282677.2:c.2867G>C (PEX1)	NP_001269606.1:p.Arg956Pro
NM_001282678.1:c.2414G>C (PEX1)	NP_001269607.1:p.Arg805Pro
NM_001282678.2:c.2414G>C (PEX1)	NP_001269607.1:p.Arg805Pro
ENST00000248633.8:c.3038G>C (PEX1)	ENSP00000248633.4:p.Arg1013Pro
ENST00000428214.5:c.2867G>C (PEX1)	ENSP00000394413.1:p.Arg956Pro
ENST00000438045.5:c.2072G>C (PEX1)	ENSP00000410438.1:p.Arg691Pro
ENST00000484913.5:n.3077G>C (PEX1)
ENST00000496420.5:n.4093G>C (PEX1)
XM_005250433.3:c.1289G>C (PEX1)	XP_005250490.1:p.Arg430Pro
XM_017012319.2:c.1289G>C (PEX1)	XP_016867808.1:p.Arg430Pro
XR_001744808.2:n.2065G>C (PEX1)
XR_001744842.2:n.4160C>G (GATAD1)
XR_001744843.2:n.4091C>G (GATAD1)
XR_002956472.1:n.4217C>G (GATAD1)
XR_002956473.1:n.4248C>G (GATAD1)
XR_002956474.1:n.4165C>G (GATAD1)
XR_242246.3:n.3134G>C (PEX1)
XR_242246.5:n.3085G>C (PEX1)
XR_927494.3:n.2942C>G (GATAD1)
XR_927500.3:n.2939C>G (GATAD1)
XR_927503.3:n.2873C>G (GATAD1)