Canonical Allele Identifier: CA1725931969
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494912G= , CM000669.2:g.92494912G= GRCh38
NC_000007.13:g.92124226G= , CM000669.1:g.92124226G= GRCh37
NC_000007.12:g.91962162G= NCBI36
NG_008341.1:g.38620C=
NG_008341.2:g.38620C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2784-283C= MANE Select ENSP00000248633.4:n.2784-283C=
ENST00000248633.8:c.2784-283C= ENSP00000248633.4:n.2784-283C=
ENST00000428214.5:c.2613-283C= ENSP00000394413.1:n.2613-283C=
ENST00000438045.5:c.1818-283C= ENSP00000410438.1:n.1818-283C=
ENST00000484913.5:n.2823-283C=
ENST00000496420.5:n.2676-283C=
NM_000466.2:c.2784-283C= NP_000457.1:n.2784-283C=
NM_001282677.1:c.2613-283C= NP_001269606.1:n.2613-283C=
NM_001282678.1:c.2160-283C= NP_001269607.1:n.2160-283C=
XM_005250433.3:c.1035-283C= XP_005250490.1:n.1035-283C=
XR_242246.3:n.2880-283C=
XM_017012319.2:c.1035-283C= XP_016867808.1:n.1035-283C=
XR_001744808.2:n.1811-283C=
XR_242246.5:n.2831-283C=
NM_000466.3:c.2784-283C= MANE Select NP_000457.1:n.2784-283C=
NM_001282677.2:c.2613-283C= NP_001269606.1:n.2613-283C=
NM_001282678.2:c.2160-283C= NP_001269607.1:n.2160-283C=