Canonical Allele Identifier: CA368161451

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489785T>C , CM000669.2:g.92489785T>C GRCh38
NC_000007.13:g.92119099T>C , CM000669.1:g.92119099T>C GRCh37
NC_000007.12:g.91957035T>C NCBI36
NG_008341.1:g.43747A>G
NG_008341.2:g.43747A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3565A>G (PEX1) MANE Select ENSP00000248633.4:p.Thr1189Ala
ENST00000248633.8:c.3565A>G (PEX1) ENSP00000248633.4:p.Thr1189Ala
ENST00000428214.5:n.3394A>G (PEX1) ENSP00000394413.1:p.Thr1132Ala
ENST00000438045.5:c.2599A>G (PEX1) ENSP00000410438.1:p.Thr867Ala
ENST00000469417.1:n.462A>G (PEX1)
ENST00000477342.1:n.10A>G (PEX1)
ENST00000484913.5:n.3604A>G (PEX1)
ENST00000496420.5:n.4620A>G (PEX1)
NM_000466.2:c.3565A>G (PEX1) NP_000457.1:p.Thr1189Ala
NM_001282677.1:c.3394A>G (PEX1) NP_001269606.1:p.Thr1132Ala
NM_001282678.1:c.2941A>G (PEX1) NP_001269607.1:p.Thr981Ala
XM_005250433.3:c.1816A>G (PEX1) XP_005250490.1:p.Thr606Ala
XR_242246.3:n.3661A>G (PEX1)
XR_927494.1:n.1036-1458T>C (GATAD1)
XR_927495.1:n.1036-301T>C (GATAD1)
XR_927496.1:n.1041-1458T>C (GATAD1)
XR_927497.1:n.1036-301T>C (GATAD1)
XR_927498.1:n.1124-1458T>C (GATAD1)
XR_927500.1:n.1033-1458T>C (GATAD1)
XR_927502.1:n.1033-301T>C (GATAD1)
XR_927503.1:n.967-1458T>C (GATAD1)
XM_017012319.2:c.1816A>G (PEX1) XP_016867808.1:p.Thr606Ala
XR_001744808.2:n.2592A>G (PEX1)
XR_001744842.2:n.2281-1458T>C (GATAD1)
XR_001744843.2:n.2212-1458T>C (GATAD1)
XR_002956472.1:n.2281-301T>C (GATAD1)
XR_002956473.1:n.2369-1458T>C (GATAD1)
XR_002956474.1:n.2286-1458T>C (GATAD1)
XR_242246.5:n.3612A>G (PEX1)
XR_927494.3:n.1063-1458T>C (GATAD1)
XR_927500.3:n.1060-1458T>C (GATAD1)
XR_927503.3:n.994-1458T>C (GATAD1)
NM_000466.3:c.3565A>G (PEX1) MANE Select NP_000457.1:p.Thr1189Ala
NM_001282677.2:c.3394A>G (PEX1) NP_001269606.1:p.Thr1132Ala
NM_001282678.2:c.2941A>G (PEX1) NP_001269607.1:p.Thr981Ala