Canonical Allele Identifier: CA1725936807
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92502915T= , CM000669.2:g.92502915T= GRCh38
NC_000007.13:g.92132229T= , CM000669.1:g.92132229T= GRCh37
NC_000007.12:g.91970165T= NCBI36
NG_008341.1:g.30617A=
NG_008341.2:g.30617A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2226+126A= MANE Select ENSP00000248633.4:n.2226+126A=
ENST00000248633.8:c.2226+126A= ENSP00000248633.4:n.2226+126A=
ENST00000428214.5:c.2055+126A= ENSP00000394413.1:n.2055+126A=
ENST00000438045.5:c.1260+126A= ENSP00000410438.1:n.1260+126A=
ENST00000484913.5:n.2265+126A=
ENST00000496092.1:n.24+126A=
ENST00000496420.5:n.1902+126A=
NM_000466.2:c.2226+126A= NP_000457.1:n.2226+126A=
NM_001282677.1:c.2055+126A= NP_001269606.1:n.2055+126A=
NM_001282678.1:c.1602+126A= NP_001269607.1:n.1602+126A=
XM_005250433.3:c.477+126A= XP_005250490.1:n.477+126A=
XR_242246.3:n.2322+126A=
XM_017012319.2:c.477+126A= XP_016867808.1:n.477+126A=
XR_001744808.2:n.1253+126A=
XR_242246.5:n.2273+126A=
NM_000466.3:c.2226+126A= MANE Select NP_000457.1:n.2226+126A=
NM_001282677.2:c.2055+126A= NP_001269606.1:n.2055+126A=
NM_001282678.2:c.1602+126A= NP_001269607.1:n.1602+126A=