Canonical Allele Identifier: CA4341346
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1086486
ClinVar RCV Id: RCV001404290
dbSNP Id: rs562108145
gnomAD v2: 7-92138654-C-G
gnomAD v3: 7-92509340-C-G
gnomAD v4: 7-92509340-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92509340C>G , CM000669.2:g.92509340C>G GRCh38
NC_000007.13:g.92138654C>G , CM000669.1:g.92138654C>G GRCh37
NC_000007.12:g.91976590C>G NCBI36
NG_008341.1:g.24192G>C
NG_008341.2:g.24192G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1659G>C MANE Select ENSP00000248633.4:p.Leu553=
ENST00000248633.8:c.1659G>C ENSP00000248633.4:p.Leu553=
ENST00000422866.1:c.488+1604G>C
ENST00000428214.5:c.1659G>C ENSP00000394413.1:p.Leu553=
ENST00000438045.5:c.693G>C ENSP00000410438.1:p.Leu231=
ENST00000484913.5:n.1698G>C
NM_000466.2:c.1659G>C NP_000457.1:p.Leu553=
NM_001282677.1:c.1659G>C NP_001269606.1:p.Leu553=
NM_001282678.1:c.1035G>C NP_001269607.1:p.Leu345=
XM_005250433.3:c.-80+1604G>C XP_005250490.1:n.-80+1604G>C
XR_242246.3:n.1755G>C
XM_017012319.2:c.-80+1604G>C XP_016867808.1:n.-80+1604G>C
XR_001744808.2:n.697+1604G>C
XR_242246.5:n.1706G>C
NM_000466.3:c.1659G>C MANE Select NP_000457.1:p.Leu553=
NM_001282677.2:c.1659G>C NP_001269606.1:p.Leu553=
NM_001282678.2:c.1035G>C NP_001269607.1:p.Leu345=