Canonical Allele Identifier: CA4341345
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1080931
ClinVar RCV Id: RCV001396750
dbSNP Id: rs763624262
gnomAD v2: 7-92138651-G-A
gnomAD v3: 7-92509337-G-A
gnomAD v4: 7-92509337-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92509337G>A , CM000669.2:g.92509337G>A GRCh38
NC_000007.13:g.92138651G>A , CM000669.1:g.92138651G>A GRCh37
NC_000007.12:g.91976587G>A NCBI36
NG_008341.1:g.24195C>T
NG_008341.2:g.24195C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1662C>T MANE Select ENSP00000248633.4:p.Ser554=
ENST00000248633.8:c.1662C>T ENSP00000248633.4:p.Ser554=
ENST00000422866.1:c.488+1607C>T
ENST00000428214.5:c.1662C>T ENSP00000394413.1:p.Ser554=
ENST00000438045.5:c.696C>T ENSP00000410438.1:p.Ser232=
ENST00000484913.5:n.1701C>T
NM_000466.2:c.1662C>T NP_000457.1:p.Ser554=
NM_001282677.1:c.1662C>T NP_001269606.1:p.Ser554=
NM_001282678.1:c.1038C>T NP_001269607.1:p.Ser346=
XM_005250433.3:c.-80+1607C>T XP_005250490.1:n.-80+1607C>T
XR_242246.3:n.1758C>T
XM_017012319.2:c.-80+1607C>T XP_016867808.1:n.-80+1607C>T
XR_001744808.2:n.697+1607C>T
XR_242246.5:n.1709C>T
NM_000466.3:c.1662C>T MANE Select NP_000457.1:p.Ser554=
NM_001282677.2:c.1662C>T NP_001269606.1:p.Ser554=
NM_001282678.2:c.1038C>T NP_001269607.1:p.Ser346=