Canonical Allele Identifier: CA1725931747
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494663C= , CM000669.2:g.92494663C= GRCh38
NC_000007.13:g.92123977C= , CM000669.1:g.92123977C= GRCh37
NC_000007.12:g.91961913C= NCBI36
NG_008341.1:g.38869G=
NG_008341.2:g.38869G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2784-34G= MANE Select ENSP00000248633.4:n.2784-34G=
ENST00000248633.8:c.2784-34G= ENSP00000248633.4:n.2784-34G=
ENST00000428214.5:c.2613-34G= ENSP00000394413.1:n.2613-34G=
ENST00000438045.5:c.1818-34G= ENSP00000410438.1:n.1818-34G=
ENST00000484913.5:n.2823-34G=
ENST00000496420.5:n.2676-34G=
NM_000466.2:c.2784-34G= NP_000457.1:n.2784-34G=
NM_001282677.1:c.2613-34G= NP_001269606.1:n.2613-34G=
NM_001282678.1:c.2160-34G= NP_001269607.1:n.2160-34G=
XM_005250433.3:c.1035-34G= XP_005250490.1:n.1035-34G=
XR_242246.3:n.2880-34G=
XM_017012319.2:c.1035-34G= XP_016867808.1:n.1035-34G=
XR_001744808.2:n.1811-34G=
XR_242246.5:n.2831-34G=
NM_000466.3:c.2784-34G= MANE Select NP_000457.1:n.2784-34G=
NM_001282677.2:c.2613-34G= NP_001269606.1:n.2613-34G=
NM_001282678.2:c.2160-34G= NP_001269607.1:n.2160-34G=