Canonical Allele Identifier: CA4340796

Linked Data

ClinVar Variation Id: 360913
ClinVar RCV Id: RCV000282489
dbSNP Id: rs749324355

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489784G>A , CM000669.2:g.92489784G>A GRCh38
NC_000007.13:g.92119098G>A , CM000669.1:g.92119098G>A GRCh37
NC_000007.12:g.91957034G>A NCBI36
NG_008341.1:g.43748C>T
NG_008341.2:g.43748C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3566C>T (PEX1) MANE Select ENSP00000248633.4:p.Thr1189Ile
ENST00000248633.8:c.3566C>T (PEX1) ENSP00000248633.4:p.Thr1189Ile
ENST00000428214.5:n.3395C>T (PEX1) ENSP00000394413.1:p.Thr1132Ile
ENST00000438045.5:c.2600C>T (PEX1) ENSP00000410438.1:p.Thr867Ile
ENST00000469417.1:n.463C>T (PEX1)
ENST00000477342.1:n.11C>T (PEX1)
ENST00000484913.5:n.3605C>T (PEX1)
ENST00000496420.5:n.4621C>T (PEX1)
NM_000466.2:c.3566C>T (PEX1) NP_000457.1:p.Thr1189Ile
NM_001282677.1:c.3395C>T (PEX1) NP_001269606.1:p.Thr1132Ile
NM_001282678.1:c.2942C>T (PEX1) NP_001269607.1:p.Thr981Ile
XM_005250433.3:c.1817C>T (PEX1) XP_005250490.1:p.Thr606Ile
XR_242246.3:n.3662C>T (PEX1)
XR_927494.1:n.1036-1459G>A (GATAD1)
XR_927495.1:n.1036-302G>A (GATAD1)
XR_927496.1:n.1041-1459G>A (GATAD1)
XR_927497.1:n.1036-302G>A (GATAD1)
XR_927498.1:n.1124-1459G>A (GATAD1)
XR_927500.1:n.1033-1459G>A (GATAD1)
XR_927502.1:n.1033-302G>A (GATAD1)
XR_927503.1:n.967-1459G>A (GATAD1)
XM_017012319.2:c.1817C>T (PEX1) XP_016867808.1:p.Thr606Ile
XR_001744808.2:n.2593C>T (PEX1)
XR_001744842.2:n.2281-1459G>A (GATAD1)
XR_001744843.2:n.2212-1459G>A (GATAD1)
XR_002956472.1:n.2281-302G>A (GATAD1)
XR_002956473.1:n.2369-1459G>A (GATAD1)
XR_002956474.1:n.2286-1459G>A (GATAD1)
XR_242246.5:n.3613C>T (PEX1)
XR_927494.3:n.1063-1459G>A (GATAD1)
XR_927500.3:n.1060-1459G>A (GATAD1)
XR_927503.3:n.994-1459G>A (GATAD1)
NM_000466.3:c.3566C>T (PEX1) MANE Select NP_000457.1:p.Thr1189Ile
NM_001282677.2:c.3395C>T (PEX1) NP_001269606.1:p.Thr1132Ile
NM_001282678.2:c.2942C>T (PEX1) NP_001269607.1:p.Thr981Ile