Canonical Allele Identifier: CA16041144

Linked Data

ClinVar Variation Id: 371715
dbSNP Id: rs1057517480

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489803C>A , CM000669.2:g.92489803C>A GRCh38
NC_000007.13:g.92119117C>A , CM000669.1:g.92119117C>A GRCh37
NC_000007.12:g.91957053C>A NCBI36
NG_008341.1:g.43729G>T
NG_008341.2:g.43729G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3547G>T (PEX1) MANE Select ENSP00000248633.4:p.Glu1183Ter
ENST00000248633.8:c.3547G>T ENSP00000248633.4:p.Glu1183Ter
ENST00000428214.5:n.3376G>T ENSP00000394413.1:p.Glu1126Ter
ENST00000438045.5:c.2581G>T ENSP00000410438.1:p.Glu861Ter
ENST00000469417.1:n.444G>T
ENST00000484913.5:n.3586G>T
ENST00000496420.5:n.4602G>T
NM_000466.2:c.3547G>T (PEX1) NP_000457.1:p.Glu1183Ter
NM_001282677.1:c.3376G>T (PEX1) NP_001269606.1:p.Glu1126Ter
NM_001282678.1:c.2923G>T (PEX1) NP_001269607.1:p.Glu975Ter
XM_005250433.3:c.1798G>T (PEX1) XP_005250490.1:p.Glu600Ter
XR_242246.3:n.3643G>T (PEX1)
XR_927494.1:n.1036-1440C>A (GATAD1)
XR_927495.1:n.1036-283C>A (GATAD1)
XR_927496.1:n.1041-1440C>A (GATAD1)
XR_927497.1:n.1036-283C>A (GATAD1)
XR_927498.1:n.1124-1440C>A (GATAD1)
XR_927500.1:n.1033-1440C>A (GATAD1)
XR_927502.1:n.1033-283C>A (GATAD1)
XR_927503.1:n.967-1440C>A (GATAD1)
XM_017012319.2:c.1798G>T (PEX1) XP_016867808.1:p.Glu600Ter
XR_001744808.2:n.2574G>T (PEX1)
XR_001744842.2:n.2281-1440C>A (GATAD1)
XR_001744843.2:n.2212-1440C>A (GATAD1)
XR_002956472.1:n.2281-283C>A (GATAD1)
XR_002956473.1:n.2369-1440C>A (GATAD1)
XR_002956474.1:n.2286-1440C>A (GATAD1)
XR_242246.5:n.3594G>T (PEX1)
XR_927494.3:n.1063-1440C>A (GATAD1)
XR_927500.3:n.1060-1440C>A (GATAD1)
XR_927503.3:n.994-1440C>A (GATAD1)
NM_000466.3:c.3547G>T (PEX1) MANE Select NP_000457.1:p.Glu1183Ter
NM_001282677.2:c.3376G>T (PEX1) NP_001269606.1:p.Glu1126Ter
NM_001282678.2:c.2923G>T (PEX1) NP_001269607.1:p.Glu975Ter