Canonical Allele Identifier: CA1725928471

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92491419A= , CM000669.2:g.92491419A= GRCh38
NC_000007.13:g.92120733A= , CM000669.1:g.92120733A= GRCh37
NC_000007.12:g.91958669A= NCBI36
NG_008341.1:g.42113T=
NG_008341.2:g.42113T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.3291T= (PEX1) MANE Select ENSP00000248633.4:p.Ala1097=
ENST00000248633.8:c.3291T= (PEX1) ENSP00000248633.4:p.Ala1097=
ENST00000428214.5:c.3120T= (PEX1) ENSP00000394413.1:p.Ala1040=
ENST00000438045.5:c.2325T= (PEX1) ENSP00000410438.1:p.Ala775=
ENST00000484913.5:n.3330T= (PEX1)
ENST00000496420.5:n.4346T= (PEX1)
NM_000466.2:c.3291T= (PEX1) NP_000457.1:p.Ala1097=
NM_001282677.1:c.3120T= (PEX1) NP_001269606.1:p.Ala1040=
NM_001282678.1:c.2667T= (PEX1) NP_001269607.1:p.Ala889=
XM_005250433.3:c.1542T= (PEX1) XP_005250490.1:p.Ala514=
XR_242246.3:n.3387T= (PEX1)
XM_017012319.2:c.1542T= (PEX1) XP_016867808.1:p.Ala514=
XR_001744808.2:n.2318T= (PEX1)
XR_001744842.2:n.2457A= (GATAD1)
XR_001744843.2:n.2388A= (GATAD1)
XR_002956472.1:n.2514A= (GATAD1)
XR_002956473.1:n.2545A= (GATAD1)
XR_002956474.1:n.2462A= (GATAD1)
XR_242246.5:n.3338T= (PEX1)
XR_927494.3:n.1239A= (GATAD1)
XR_927500.3:n.1236A= (GATAD1)
XR_927503.3:n.1170A= (GATAD1)
NM_000466.3:c.3291T= (PEX1) MANE Select NP_000457.1:p.Ala1097=
NM_001282677.2:c.3120T= (PEX1) NP_001269606.1:p.Ala1040=
NM_001282678.2:c.2667T= (PEX1) NP_001269607.1:p.Ala889=