Canonical Allele Identifier: CA1725937947
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92511016A= , CM000669.2:g.92511016A= GRCh38
NC_000007.13:g.92140330A= , CM000669.1:g.92140330A= GRCh37
NC_000007.12:g.91978266A= NCBI36
NG_008341.1:g.22516T=
NG_008341.2:g.22516T=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1515T= MANE Select ENSP00000248633.4:p.His505=
ENST00000248633.8:c.1515T= ENSP00000248633.4:p.His505=
ENST00000422866.1:c.416T=
ENST00000428214.5:c.1515T= ENSP00000394413.1:p.His505=
ENST00000438045.5:c.549T= ENSP00000410438.1:p.His183=
ENST00000476923.1:n.276T=
ENST00000484913.5:n.1554T=
NM_000466.2:c.1515T= NP_000457.1:p.His505=
NM_001282677.1:c.1515T= NP_001269606.1:p.His505=
NM_001282678.1:c.891T= NP_001269607.1:p.His297=
XM_005250433.3:c.-152T= XP_005250490.1:n.-152T=
XR_242246.3:n.1611T=
XM_017012319.2:c.-152T= XP_016867808.1:n.-152T=
XR_001744808.2:n.625T=
XR_242246.5:n.1562T=
NM_000466.3:c.1515T= MANE Select NP_000457.1:p.His505=
NM_001282677.2:c.1515T= NP_001269606.1:p.His505=
NM_001282678.2:c.891T= NP_001269607.1:p.His297=