Canonical Allele Identifier: CA1725933265
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496688T= , CM000669.2:g.92496688T= GRCh38
NC_000007.13:g.92126002T= , CM000669.1:g.92126002T= GRCh37
NC_000007.12:g.91963938T= NCBI36
NG_008341.1:g.36844A=
NG_008341.2:g.36844A=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2783+25A= MANE Select ENSP00000248633.4:n.2783+25A=
ENST00000248633.8:c.2783+25A= ENSP00000248633.4:n.2783+25A=
ENST00000428214.5:c.2612+25A= ENSP00000394413.1:n.2612+25A=
ENST00000438045.5:c.1817+25A= ENSP00000410438.1:n.1817+25A=
ENST00000484913.5:n.2822+25A=
ENST00000496420.5:n.2675+25A=
NM_000466.2:c.2783+25A= NP_000457.1:n.2783+25A=
NM_001282677.1:c.2612+25A= NP_001269606.1:n.2612+25A=
NM_001282678.1:c.2159+25A= NP_001269607.1:n.2159+25A=
XM_005250433.3:c.1034+25A= XP_005250490.1:n.1034+25A=
XR_242246.3:n.2879+25A=
XM_017012319.2:c.1034+25A= XP_016867808.1:n.1034+25A=
XR_001744808.2:n.1810+25A=
XR_242246.5:n.2830+25A=
NM_000466.3:c.2783+25A= MANE Select NP_000457.1:n.2783+25A=
NM_001282677.2:c.2612+25A= NP_001269606.1:n.2612+25A=
NM_001282678.2:c.2159+25A= NP_001269607.1:n.2159+25A=