Canonical Allele Identifier: CA1725931419

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494517T= , CM000669.2:g.92494517T= GRCh38
NC_000007.13:g.92123831T= , CM000669.1:g.92123831T= GRCh37
NC_000007.12:g.91961767T= NCBI36
NG_008341.1:g.39015A=
NG_008341.2:g.39015A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2896A= (PEX1) MANE Select ENSP00000248633.4:p.Thr966=
ENST00000248633.8:c.2896A= (PEX1) ENSP00000248633.4:p.Thr966=
ENST00000428214.5:c.2725A= (PEX1) ENSP00000394413.1:p.Thr909=
ENST00000438045.5:c.1930A= (PEX1) ENSP00000410438.1:p.Thr644=
ENST00000484913.5:n.2935A= (PEX1)
ENST00000496420.5:n.2788A= (PEX1)
NM_000466.2:c.2896A= (PEX1) NP_000457.1:p.Thr966=
NM_001282677.1:c.2725A= (PEX1) NP_001269606.1:p.Thr909=
NM_001282678.1:c.2272A= (PEX1) NP_001269607.1:p.Thr758=
XM_005250433.3:c.1147A= (PEX1) XP_005250490.1:p.Thr383=
XR_242246.3:n.2992A= (PEX1)
XM_017012319.2:c.1147A= (PEX1) XP_016867808.1:p.Thr383=
XR_001744808.2:n.1923A= (PEX1)
XR_001744843.2:n.5486T= (GATAD1)
XR_242246.5:n.2943A= (PEX1)
XR_927494.3:n.4337T= (GATAD1)
XR_927503.3:n.4268T= (GATAD1)
NM_000466.3:c.2896A= (PEX1) MANE Select NP_000457.1:p.Thr966=
NM_001282677.2:c.2725A= (PEX1) NP_001269606.1:p.Thr909=
NM_001282678.2:c.2272A= (PEX1) NP_001269607.1:p.Thr758=