Canonical Allele Identifier: CA368161483

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489790T>A , CM000669.2:g.92489790T>A GRCh38
NC_000007.13:g.92119104T>A , CM000669.1:g.92119104T>A GRCh37
NC_000007.12:g.91957040T>A NCBI36
NG_008341.1:g.43742A>T
NG_008341.2:g.43742A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3560A>T (PEX1) MANE Select ENSP00000248633.4:p.Glu1187Val
ENST00000248633.8:c.3560A>T (PEX1) ENSP00000248633.4:p.Glu1187Val
ENST00000428214.5:c.3389A>T (PEX1) ENSP00000394413.1:p.Glu1130Val
ENST00000438045.5:c.2594A>T (PEX1) ENSP00000410438.1:p.Glu865Val
ENST00000469417.1:n.457A>T (PEX1)
ENST00000477342.1:n.5A>T (PEX1)
ENST00000484913.5:n.3599A>T (PEX1)
ENST00000496420.5:n.4615A>T (PEX1)
NM_000466.2:c.3560A>T (PEX1) NP_000457.1:p.Glu1187Val
NM_001282677.1:c.3389A>T (PEX1) NP_001269606.1:p.Glu1130Val
NM_001282678.1:c.2936A>T (PEX1) NP_001269607.1:p.Glu979Val
XM_005250433.3:c.1811A>T (PEX1) XP_005250490.1:p.Glu604Val
XR_242246.3:n.3656A>T (PEX1)
XR_927494.1:n.1036-1453T>A (GATAD1)
XR_927495.1:n.1036-296T>A (GATAD1)
XR_927496.1:n.1041-1453T>A (GATAD1)
XR_927497.1:n.1036-296T>A (GATAD1)
XR_927498.1:n.1124-1453T>A (GATAD1)
XR_927500.1:n.1033-1453T>A (GATAD1)
XR_927502.1:n.1033-296T>A (GATAD1)
XR_927503.1:n.967-1453T>A (GATAD1)
XM_017012319.2:c.1811A>T (PEX1) XP_016867808.1:p.Glu604Val
XR_001744808.2:n.2587A>T (PEX1)
XR_001744842.2:n.2281-1453T>A (GATAD1)
XR_001744843.2:n.2212-1453T>A (GATAD1)
XR_002956472.1:n.2281-296T>A (GATAD1)
XR_002956473.1:n.2369-1453T>A (GATAD1)
XR_002956474.1:n.2286-1453T>A (GATAD1)
XR_242246.5:n.3607A>T (PEX1)
XR_927494.3:n.1063-1453T>A (GATAD1)
XR_927500.3:n.1060-1453T>A (GATAD1)
XR_927503.3:n.994-1453T>A (GATAD1)
NM_000466.3:c.3560A>T (PEX1) MANE Select NP_000457.1:p.Glu1187Val
NM_001282677.2:c.3389A>T (PEX1) NP_001269606.1:p.Glu1130Val
NM_001282678.2:c.2936A>T (PEX1) NP_001269607.1:p.Glu979Val