Canonical Allele Identifier: CA1725931940
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494864A= , CM000669.2:g.92494864A= GRCh38
NC_000007.13:g.92124178A= , CM000669.1:g.92124178A= GRCh37
NC_000007.12:g.91962114A= NCBI36
NG_008341.1:g.38668T=
NG_008341.2:g.38668T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2784-235T= MANE Select ENSP00000248633.4:n.2784-235T=
ENST00000248633.8:c.2784-235T= ENSP00000248633.4:n.2784-235T=
ENST00000428214.5:c.2613-235T= ENSP00000394413.1:n.2613-235T=
ENST00000438045.5:c.1818-235T= ENSP00000410438.1:n.1818-235T=
ENST00000484913.5:n.2823-235T=
ENST00000496420.5:n.2676-235T=
NM_000466.2:c.2784-235T= NP_000457.1:n.2784-235T=
NM_001282677.1:c.2613-235T= NP_001269606.1:n.2613-235T=
NM_001282678.1:c.2160-235T= NP_001269607.1:n.2160-235T=
XM_005250433.3:c.1035-235T= XP_005250490.1:n.1035-235T=
XR_242246.3:n.2880-235T=
XM_017012319.2:c.1035-235T= XP_016867808.1:n.1035-235T=
XR_001744808.2:n.1811-235T=
XR_242246.5:n.2831-235T=
NM_000466.3:c.2784-235T= MANE Select NP_000457.1:n.2784-235T=
NM_001282677.2:c.2613-235T= NP_001269606.1:n.2613-235T=
NM_001282678.2:c.2160-235T= NP_001269607.1:n.2160-235T=