Canonical Allele Identifier: CA4341236
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1157629
ClinVar RCV Id: RCV001500768
dbSNP Id: rs774256047

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504775A>G , CM000669.2:g.92504775A>G GRCh38
NC_000007.13:g.92134089A>G , CM000669.1:g.92134089A>G GRCh37
NC_000007.12:g.91972025A>G NCBI36
NG_008341.1:g.28757T>C
NG_008341.2:g.28757T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2028T>C MANE Select ENSP00000248633.4:p.His676=
ENST00000248633.8:c.2028T>C ENSP00000248633.4:p.His676=
ENST00000428214.5:n.1900+1473T>C ENSP00000394413.1:p.=
ENST00000438045.5:c.1062T>C ENSP00000410438.1:p.His354=
ENST00000484913.5:n.2067T>C
ENST00000496420.5:n.1704T>C
NM_000466.2:c.2028T>C NP_000457.1:p.His676=
NM_001282677.1:c.1900+1473T>C NP_001269606.1:p.=
NM_001282678.1:c.1404T>C NP_001269607.1:p.His468=
XM_005250433.3:c.279T>C XP_005250490.1:p.His93=
XR_242246.3:n.2124T>C
XM_017012319.2:c.279T>C XP_016867808.1:p.His93=
XR_001744808.2:n.1055T>C
XR_242246.5:n.2075T>C
NM_000466.3:c.2028T>C MANE Select NP_000457.1:p.His676=
NM_001282677.2:c.1900+1473T>C NP_001269606.1:p.=
NM_001282678.2:c.1404T>C NP_001269607.1:p.His468=