Canonical Allele Identifier: CA1725935286
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92500006T= , CM000669.2:g.92500006T= GRCh38
NC_000007.13:g.92129320T= , CM000669.1:g.92129320T= GRCh37
NC_000007.12:g.91967256T= NCBI36
NG_008341.1:g.33526A=
NG_008341.2:g.33526A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2584-168A= MANE Select ENSP00000248633.4:n.2584-168A=
ENST00000248633.8:c.2584-168A= ENSP00000248633.4:n.2584-168A=
ENST00000428214.5:c.2413-168A= ENSP00000394413.1:n.2413-168A=
ENST00000438045.5:c.1618-168A= ENSP00000410438.1:n.1618-168A=
ENST00000484913.5:n.2623-168A=
ENST00000496420.5:n.2476-168A=
NM_000466.2:c.2584-168A= NP_000457.1:n.2584-168A=
NM_001282677.1:c.2413-168A= NP_001269606.1:n.2413-168A=
NM_001282678.1:c.1960-168A= NP_001269607.1:n.1960-168A=
XM_005250433.3:c.835-168A= XP_005250490.1:n.835-168A=
XR_242246.3:n.2680-168A=
XM_017012319.2:c.835-168A= XP_016867808.1:n.835-168A=
XR_001744808.2:n.1611-168A=
XR_242246.5:n.2631-168A=
NM_000466.3:c.2584-168A= MANE Select NP_000457.1:n.2584-168A=
NM_001282677.2:c.2413-168A= NP_001269606.1:n.2413-168A=
NM_001282678.2:c.1960-168A= NP_001269607.1:n.1960-168A=