Canonical Allele Identifier: CA1725936171
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92502111A= , CM000669.2:g.92502111A= GRCh38
NC_000007.13:g.92131425A= , CM000669.1:g.92131425A= GRCh37
NC_000007.12:g.91969361A= NCBI36
NG_008341.1:g.31421T=
NG_008341.2:g.31421T=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2227-32T= MANE Select ENSP00000248633.4:n.2227-32T=
ENST00000248633.8:c.2227-32T= ENSP00000248633.4:n.2227-32T=
ENST00000428214.5:c.2056-32T= ENSP00000394413.1:n.2056-32T=
ENST00000438045.5:c.1261-32T= ENSP00000410438.1:n.1261-32T=
ENST00000484913.5:n.2266-32T=
ENST00000496092.1:n.25-32T=
ENST00000496420.5:n.1903-32T=
NM_000466.2:c.2227-32T= NP_000457.1:n.2227-32T=
NM_001282677.1:c.2056-32T= NP_001269606.1:n.2056-32T=
NM_001282678.1:c.1603-32T= NP_001269607.1:n.1603-32T=
XM_005250433.3:c.478-32T= XP_005250490.1:n.478-32T=
XR_242246.3:n.2323-32T=
XM_017012319.2:c.478-32T= XP_016867808.1:n.478-32T=
XR_001744808.2:n.1254-32T=
XR_242246.5:n.2274-32T=
NM_000466.3:c.2227-32T= MANE Select NP_000457.1:n.2227-32T=
NM_001282677.2:c.2056-32T= NP_001269606.1:n.2056-32T=
NM_001282678.2:c.1603-32T= NP_001269607.1:n.1603-32T=