Canonical Allele Identifier: CA1725935304
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92500043C= , CM000669.2:g.92500043C= GRCh38
NC_000007.13:g.92129357C= , CM000669.1:g.92129357C= GRCh37
NC_000007.12:g.91967293C= NCBI36
NG_008341.1:g.33489G=
NG_008341.2:g.33489G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2584-205G= MANE Select ENSP00000248633.4:n.2584-205G=
ENST00000248633.8:c.2584-205G= ENSP00000248633.4:n.2584-205G=
ENST00000428214.5:c.2413-205G= ENSP00000394413.1:n.2413-205G=
ENST00000438045.5:c.1618-205G= ENSP00000410438.1:n.1618-205G=
ENST00000484913.5:n.2623-205G=
ENST00000496420.5:n.2476-205G=
NM_000466.2:c.2584-205G= NP_000457.1:n.2584-205G=
NM_001282677.1:c.2413-205G= NP_001269606.1:n.2413-205G=
NM_001282678.1:c.1960-205G= NP_001269607.1:n.1960-205G=
XM_005250433.3:c.835-205G= XP_005250490.1:n.835-205G=
XR_242246.3:n.2680-205G=
XM_017012319.2:c.835-205G= XP_016867808.1:n.835-205G=
XR_001744808.2:n.1611-205G=
XR_242246.5:n.2631-205G=
NM_000466.3:c.2584-205G= MANE Select NP_000457.1:n.2584-205G=
NM_001282677.2:c.2413-205G= NP_001269606.1:n.2413-205G=
NM_001282678.2:c.1960-205G= NP_001269607.1:n.1960-205G=