Canonical Allele Identifier: CA1725947895
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517794A= , CM000669.2:g.92517794A= GRCh38
NC_000007.13:g.92147108A= , CM000669.1:g.92147108A= GRCh37
NC_000007.12:g.91985044A= NCBI36
NG_008341.1:g.15738T=
NG_008341.2:g.15738T=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.721T= MANE Select ENSP00000248633.4:p.Ser241=
ENST00000248633.8:c.721T= ENSP00000248633.4:p.Ser241=
ENST00000428214.5:c.721T= ENSP00000394413.1:p.Ser241=
ENST00000438045.5:c.274-3827T= ENSP00000410438.1:n.274-3827T=
ENST00000484913.5:n.760T=
NM_000466.2:c.721T= NP_000457.1:p.Ser241=
NM_001282677.1:c.721T= NP_001269606.1:p.Ser241=
NM_001282678.1:c.97T= NP_001269607.1:p.Ser33=
XR_242246.3:n.817T=
XR_242246.5:n.768T=
NM_000466.3:c.721T= MANE Select NP_000457.1:p.Ser241=
NM_001282677.2:c.721T= NP_001269606.1:p.Ser241=
NM_001282678.2:c.97T= NP_001269607.1:p.Ser33=