Canonical Allele Identifier: CA1725938062
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92511078T= , CM000669.2:g.92511078T= GRCh38
NC_000007.13:g.92140392T= , CM000669.1:g.92140392T= GRCh37
NC_000007.12:g.91978328T= NCBI36
NG_008341.1:g.22454A=
NG_008341.2:g.22454A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1484-31A= MANE Select ENSP00000248633.4:n.1484-31A=
ENST00000248633.8:c.1484-31A= ENSP00000248633.4:n.1484-31A=
ENST00000422866.1:c.385-31A=
ENST00000428214.5:c.1484-31A= ENSP00000394413.1:n.1484-31A=
ENST00000438045.5:c.518-31A= ENSP00000410438.1:n.518-31A=
ENST00000476923.1:n.245-31A=
ENST00000484913.5:n.1523-31A=
NM_000466.2:c.1484-31A= NP_000457.1:n.1484-31A=
NM_001282677.1:c.1484-31A= NP_001269606.1:n.1484-31A=
NM_001282678.1:c.860-31A= NP_001269607.1:n.860-31A=
XM_005250433.3:c.-183-31A= XP_005250490.1:n.-183-31A=
XR_242246.3:n.1580-31A=
XM_017012319.2:c.-183-31A= XP_016867808.1:n.-183-31A=
XR_001744808.2:n.594-31A=
XR_242246.5:n.1531-31A=
NM_000466.3:c.1484-31A= MANE Select NP_000457.1:n.1484-31A=
NM_001282677.2:c.1484-31A= NP_001269606.1:n.1484-31A=
NM_001282678.2:c.860-31A= NP_001269607.1:n.860-31A=