Canonical Allele Identifier: CA368164077

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491399A>C , CM000669.2:g.92491399A>C	GRCh38
NC_000007.13:g.92120713A>C , CM000669.1:g.92120713A>C	GRCh37
NC_000007.12:g.91958649A>C	NCBI36
NG_008341.1:g.42133T>G
NG_008341.2:g.42133T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.3311T>G (PEX1) MANE Select	NP_000457.1:p.Leu1104Ter
ENST00000248633.9:c.3311T>G (PEX1) MANE Select	ENSP00000248633.4:p.Leu1104Ter
NM_000466.2:c.3311T>G (PEX1)	NP_000457.1:p.Leu1104Ter
NM_001282677.1:c.3140T>G (PEX1)	NP_001269606.1:p.Leu1047Ter
NM_001282677.2:c.3140T>G (PEX1)	NP_001269606.1:p.Leu1047Ter
NM_001282678.1:c.2687T>G (PEX1)	NP_001269607.1:p.Leu896Ter
NM_001282678.2:c.2687T>G (PEX1)	NP_001269607.1:p.Leu896Ter
ENST00000248633.8:c.3311T>G (PEX1)	ENSP00000248633.4:p.Leu1104Ter
ENST00000428214.5:c.3140T>G (PEX1)	ENSP00000394413.1:p.Leu1047Ter
ENST00000438045.5:c.2345T>G (PEX1)	ENSP00000410438.1:p.Leu782Ter
ENST00000484913.5:n.3350T>G (PEX1)
ENST00000496420.5:n.4366T>G (PEX1)
XM_005250433.3:c.1562T>G (PEX1)	XP_005250490.1:p.Leu521Ter
XM_017012319.2:c.1562T>G (PEX1)	XP_016867808.1:p.Leu521Ter
XR_001744808.2:n.2338T>G (PEX1)
XR_001744842.2:n.2437A>C (GATAD1)
XR_001744843.2:n.2368A>C (GATAD1)
XR_002956472.1:n.2494A>C (GATAD1)
XR_002956473.1:n.2525A>C (GATAD1)
XR_002956474.1:n.2442A>C (GATAD1)
XR_242246.3:n.3407T>G (PEX1)
XR_242246.5:n.3358T>G (PEX1)
XR_927494.3:n.1219A>C (GATAD1)
XR_927500.3:n.1216A>C (GATAD1)
XR_927503.3:n.1150A>C (GATAD1)