Canonical Allele Identifier: CA1725947728
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517685T= , CM000669.2:g.92517685T= GRCh38
NC_000007.13:g.92146999T= , CM000669.1:g.92146999T= GRCh37
NC_000007.12:g.91984935T= NCBI36
NG_008341.1:g.15847A=
NG_008341.2:g.15847A=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.830A= MANE Select ENSP00000248633.4:p.Gln277=
ENST00000248633.8:c.830A= ENSP00000248633.4:p.Gln277=
ENST00000428214.5:c.830A= ENSP00000394413.1:p.Gln277=
ENST00000438045.5:c.274-3718A= ENSP00000410438.1:n.274-3718A=
ENST00000484913.5:n.869A=
NM_000466.2:c.830A= NP_000457.1:p.Gln277=
NM_001282677.1:c.830A= NP_001269606.1:p.Gln277=
NM_001282678.1:c.206A= NP_001269607.1:p.Gln69=
XR_242246.3:n.926A=
XR_242246.5:n.877A=
NM_000466.3:c.830A= MANE Select NP_000457.1:p.Gln277=
NM_001282677.2:c.830A= NP_001269606.1:p.Gln277=
NM_001282678.2:c.206A= NP_001269607.1:p.Gln69=