Canonical Allele Identifier: CA4340868

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491494A>G , CM000669.2:g.92491494A>G	GRCh38
NC_000007.13:g.92120808A>G , CM000669.1:g.92120808A>G	GRCh37
NC_000007.12:g.91958744A>G	NCBI36
NG_008341.1:g.42038T>C
NG_008341.2:g.42038T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.3216T>C (PEX1) MANE Select	NP_000457.1:p.Ser1072=
ENST00000248633.9:c.3216T>C (PEX1) MANE Select	ENSP00000248633.4:p.Ser1072=
NM_000466.2:c.3216T>C (PEX1)	NP_000457.1:p.Ser1072=
NM_001282677.1:c.3045T>C (PEX1)	NP_001269606.1:p.Ser1015=
NM_001282677.2:c.3045T>C (PEX1)	NP_001269606.1:p.Ser1015=
NM_001282678.1:c.2592T>C (PEX1)	NP_001269607.1:p.Ser864=
NM_001282678.2:c.2592T>C (PEX1)	NP_001269607.1:p.Ser864=
ENST00000248633.8:c.3216T>C (PEX1)	ENSP00000248633.4:p.Ser1072=
ENST00000428214.5:c.3045T>C (PEX1)	ENSP00000394413.1:p.Ser1015=
ENST00000438045.5:c.2250T>C (PEX1)	ENSP00000410438.1:p.Ser750=
ENST00000484913.5:n.3255T>C (PEX1)
ENST00000496420.5:n.4271T>C (PEX1)
XM_005250433.3:c.1467T>C (PEX1)	XP_005250490.1:p.Ser489=
XM_017012319.2:c.1467T>C (PEX1)	XP_016867808.1:p.Ser489=
XR_001744808.2:n.2243T>C (PEX1)
XR_001744842.2:n.2532A>G (GATAD1)
XR_001744843.2:n.2463A>G (GATAD1)
XR_002956472.1:n.2589A>G (GATAD1)
XR_002956473.1:n.2620A>G (GATAD1)
XR_002956474.1:n.2537A>G (GATAD1)
XR_242246.3:n.3312T>C (PEX1)
XR_242246.5:n.3263T>C (PEX1)
XR_927494.3:n.1314A>G (GATAD1)
XR_927500.3:n.1311A>G (GATAD1)
XR_927503.3:n.1245A>G (GATAD1)