Canonical Allele Identifier: CA1725937951
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92511021C= , CM000669.2:g.92511021C= GRCh38
NC_000007.13:g.92140335C= , CM000669.1:g.92140335C= GRCh37
NC_000007.12:g.91978271C= NCBI36
NG_008341.1:g.22511G=
NG_008341.2:g.22511G=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1510G= MANE Select ENSP00000248633.4:p.Val504=
ENST00000248633.8:c.1510G= ENSP00000248633.4:p.Val504=
ENST00000422866.1:c.411G=
ENST00000428214.5:c.1510G= ENSP00000394413.1:p.Val504=
ENST00000438045.5:c.544G= ENSP00000410438.1:p.Val182=
ENST00000476923.1:n.271G=
ENST00000484913.5:n.1549G=
NM_000466.2:c.1510G= NP_000457.1:p.Val504=
NM_001282677.1:c.1510G= NP_001269606.1:p.Val504=
NM_001282678.1:c.886G= NP_001269607.1:p.Val296=
XM_005250433.3:c.-157G= XP_005250490.1:n.-157G=
XR_242246.3:n.1606G=
XM_017012319.2:c.-157G= XP_016867808.1:n.-157G=
XR_001744808.2:n.620G=
XR_242246.5:n.1557G=
NM_000466.3:c.1510G= MANE Select NP_000457.1:p.Val504=
NM_001282677.2:c.1510G= NP_001269606.1:p.Val504=
NM_001282678.2:c.886G= NP_001269607.1:p.Val296=