Canonical Allele Identifier: CA368170284

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494630C>G , CM000669.2:g.92494630C>G	GRCh38
NC_000007.13:g.92123944C>G , CM000669.1:g.92123944C>G	GRCh37
NC_000007.12:g.91961880C>G	NCBI36
NG_008341.1:g.38902G>C
NG_008341.2:g.38902G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2784-1G>C (PEX1) MANE Select	NP_000457.1:n.2784-1G>C
ENST00000248633.9:c.2784-1G>C (PEX1) MANE Select	ENSP00000248633.4:n.2784-1G>C
NM_000466.2:c.2784-1G>C (PEX1)	NP_000457.1:n.2784-1G>C
NM_001282677.1:c.2613-1G>C (PEX1)	NP_001269606.1:n.2613-1G>C
NM_001282677.2:c.2613-1G>C (PEX1)	NP_001269606.1:n.2613-1G>C
NM_001282678.1:c.2160-1G>C (PEX1)	NP_001269607.1:n.2160-1G>C
NM_001282678.2:c.2160-1G>C (PEX1)	NP_001269607.1:n.2160-1G>C
ENST00000248633.8:c.2784-1G>C (PEX1)	ENSP00000248633.4:n.2784-1G>C
ENST00000428214.5:c.2613-1G>C (PEX1)	ENSP00000394413.1:n.2613-1G>C
ENST00000438045.5:c.1818-1G>C (PEX1)	ENSP00000410438.1:n.1818-1G>C
ENST00000484913.5:n.2823-1G>C (PEX1)
ENST00000496420.5:n.2676-1G>C (PEX1)
XM_005250433.3:c.1035-1G>C (PEX1)	XP_005250490.1:n.1035-1G>C
XM_017012319.2:c.1035-1G>C (PEX1)	XP_016867808.1:n.1035-1G>C
XR_001744808.2:n.1811-1G>C (PEX1)
XR_001744843.2:n.5599C>G (GATAD1)
XR_242246.3:n.2880-1G>C (PEX1)
XR_242246.5:n.2831-1G>C (PEX1)
XR_927494.3:n.4450C>G (GATAD1)
XR_927503.3:n.4381C>G (GATAD1)