Canonical Allele Identifier: CA1725949232
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518963A= , CM000669.2:g.92518963A= GRCh38
NC_000007.13:g.92148277A= , CM000669.1:g.92148277A= GRCh37
NC_000007.12:g.91986213A= NCBI36
NG_008341.1:g.14569T=
NG_008341.2:g.14569T=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.357+32T= MANE Select ENSP00000248633.4:n.357+32T=
ENST00000248633.8:c.357+32T= ENSP00000248633.4:n.357+32T=
ENST00000428214.5:c.357+32T= ENSP00000394413.1:n.357+32T=
ENST00000438045.5:c.273+3139T= ENSP00000410438.1:n.273+3139T=
ENST00000484913.5:n.393T=
NM_000466.2:c.357+32T= NP_000457.1:n.357+32T=
NM_001282677.1:c.357+32T= NP_001269606.1:n.357+32T=
NM_001282678.1:c.-271T= NP_001269607.1:n.-271T=
XR_242246.3:n.453+32T=
XR_242246.5:n.404+32T=
NM_000466.3:c.357+32T= MANE Select NP_000457.1:n.357+32T=
NM_001282677.2:c.357+32T= NP_001269606.1:n.357+32T=
NM_001282678.2:c.-271T= NP_001269607.1:n.-271T=