Canonical Allele Identifier: CA368167321

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494307G>T , CM000669.2:g.92494307G>T GRCh38
NC_000007.13:g.92123621G>T , CM000669.1:g.92123621G>T GRCh37
NC_000007.12:g.91961557G>T NCBI36
NG_008341.1:g.39225C>A
NG_008341.2:g.39225C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3016C>A (PEX1) MANE Select ENSP00000248633.4:p.Pro1006Thr
ENST00000248633.8:c.3016C>A (PEX1) ENSP00000248633.4:p.Pro1006Thr
ENST00000428214.5:c.2845C>A (PEX1) ENSP00000394413.1:p.Pro949Thr
ENST00000438045.5:c.2050C>A (PEX1) ENSP00000410438.1:p.Pro684Thr
ENST00000484913.5:n.3055C>A (PEX1)
ENST00000496420.5:n.2908C>A (PEX1)
NM_000466.2:c.3016C>A (PEX1) NP_000457.1:p.Pro1006Thr
NM_001282677.1:c.2845C>A (PEX1) NP_001269606.1:p.Pro949Thr
NM_001282678.1:c.2392C>A (PEX1) NP_001269607.1:p.Pro798Thr
XM_005250433.3:c.1267C>A (PEX1) XP_005250490.1:p.Pro423Thr
XR_242246.3:n.3112C>A (PEX1)
XM_017012319.2:c.1267C>A (PEX1) XP_016867808.1:p.Pro423Thr
XR_001744808.2:n.2043C>A (PEX1)
XR_001744843.2:n.5276G>T (GATAD1)
XR_242246.5:n.3063C>A (PEX1)
XR_927494.3:n.4127G>T (GATAD1)
XR_927503.3:n.4058G>T (GATAD1)
NM_000466.3:c.3016C>A (PEX1) MANE Select NP_000457.1:p.Pro1006Thr
NM_001282677.2:c.2845C>A (PEX1) NP_001269606.1:p.Pro949Thr
NM_001282678.2:c.2392C>A (PEX1) NP_001269607.1:p.Pro798Thr