Canonical Allele Identifier: CA1725928655

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92491543A= , CM000669.2:g.92491543A= GRCh38
NC_000007.13:g.92120857A= , CM000669.1:g.92120857A= GRCh37
NC_000007.12:g.91958793A= NCBI36
NG_008341.1:g.41989T=
NG_008341.2:g.41989T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.3208-41T= (PEX1) MANE Select ENSP00000248633.4:n.3208-41T=
ENST00000248633.8:c.3208-41T= (PEX1) ENSP00000248633.4:n.3208-41T=
ENST00000428214.5:c.3037-41T= (PEX1) ENSP00000394413.1:n.3037-41T=
ENST00000438045.5:c.2242-41T= (PEX1) ENSP00000410438.1:n.2242-41T=
ENST00000484913.5:n.3247-41T= (PEX1)
ENST00000496420.5:n.4263-41T= (PEX1)
NM_000466.2:c.3208-41T= (PEX1) NP_000457.1:n.3208-41T=
NM_001282677.1:c.3037-41T= (PEX1) NP_001269606.1:n.3037-41T=
NM_001282678.1:c.2584-41T= (PEX1) NP_001269607.1:n.2584-41T=
XM_005250433.3:c.1459-41T= (PEX1) XP_005250490.1:n.1459-41T=
XR_242246.3:n.3304-41T= (PEX1)
XM_017012319.2:c.1459-41T= (PEX1) XP_016867808.1:n.1459-41T=
XR_001744808.2:n.2235-41T= (PEX1)
XR_001744842.2:n.2581A= (GATAD1)
XR_001744843.2:n.2512A= (GATAD1)
XR_002956472.1:n.2638A= (GATAD1)
XR_002956473.1:n.2669A= (GATAD1)
XR_002956474.1:n.2586A= (GATAD1)
XR_242246.5:n.3255-41T= (PEX1)
XR_927494.3:n.1363A= (GATAD1)
XR_927500.3:n.1360A= (GATAD1)
XR_927503.3:n.1294A= (GATAD1)
NM_000466.3:c.3208-41T= (PEX1) MANE Select NP_000457.1:n.3208-41T=
NM_001282677.2:c.3037-41T= (PEX1) NP_001269606.1:n.3037-41T=
NM_001282678.2:c.2584-41T= (PEX1) NP_001269607.1:n.2584-41T=