Canonical Allele Identifier: CA368168403

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494519A>T , CM000669.2:g.92494519A>T GRCh38
NC_000007.13:g.92123833A>T , CM000669.1:g.92123833A>T GRCh37
NC_000007.12:g.91961769A>T NCBI36
NG_008341.1:g.39013T>A
NG_008341.2:g.39013T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2894T>A (PEX1) MANE Select ENSP00000248633.4:p.Leu965Gln
ENST00000248633.8:c.2894T>A (PEX1) ENSP00000248633.4:p.Leu965Gln
ENST00000428214.5:c.2723T>A (PEX1) ENSP00000394413.1:p.Leu908Gln
ENST00000438045.5:c.1928T>A (PEX1) ENSP00000410438.1:p.Leu643Gln
ENST00000484913.5:n.2933T>A (PEX1)
ENST00000496420.5:n.2786T>A (PEX1)
NM_000466.2:c.2894T>A (PEX1) NP_000457.1:p.Leu965Gln
NM_001282677.1:c.2723T>A (PEX1) NP_001269606.1:p.Leu908Gln
NM_001282678.1:c.2270T>A (PEX1) NP_001269607.1:p.Leu757Gln
XM_005250433.3:c.1145T>A (PEX1) XP_005250490.1:p.Leu382Gln
XR_242246.3:n.2990T>A (PEX1)
XM_017012319.2:c.1145T>A (PEX1) XP_016867808.1:p.Leu382Gln
XR_001744808.2:n.1921T>A (PEX1)
XR_001744843.2:n.5488A>T (GATAD1)
XR_242246.5:n.2941T>A (PEX1)
XR_927494.3:n.4339A>T (GATAD1)
XR_927503.3:n.4270A>T (GATAD1)
NM_000466.3:c.2894T>A (PEX1) MANE Select NP_000457.1:p.Leu965Gln
NM_001282677.2:c.2723T>A (PEX1) NP_001269606.1:p.Leu908Gln
NM_001282678.2:c.2270T>A (PEX1) NP_001269607.1:p.Leu757Gln