Canonical Allele Identifier: CA368167327

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494309C>A , CM000669.2:g.92494309C>A GRCh38
NC_000007.13:g.92123623C>A , CM000669.1:g.92123623C>A GRCh37
NC_000007.12:g.91961559C>A NCBI36
NG_008341.1:g.39223G>T
NG_008341.2:g.39223G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3014G>T (PEX1) MANE Select ENSP00000248633.4:p.Cys1005Phe
ENST00000248633.8:c.3014G>T (PEX1) ENSP00000248633.4:p.Cys1005Phe
ENST00000428214.5:c.2843G>T (PEX1) ENSP00000394413.1:p.Cys948Phe
ENST00000438045.5:c.2048G>T (PEX1) ENSP00000410438.1:p.Cys683Phe
ENST00000484913.5:n.3053G>T (PEX1)
ENST00000496420.5:n.2906G>T (PEX1)
NM_000466.2:c.3014G>T (PEX1) NP_000457.1:p.Cys1005Phe
NM_001282677.1:c.2843G>T (PEX1) NP_001269606.1:p.Cys948Phe
NM_001282678.1:c.2390G>T (PEX1) NP_001269607.1:p.Cys797Phe
XM_005250433.3:c.1265G>T (PEX1) XP_005250490.1:p.Cys422Phe
XR_242246.3:n.3110G>T (PEX1)
XM_017012319.2:c.1265G>T (PEX1) XP_016867808.1:p.Cys422Phe
XR_001744808.2:n.2041G>T (PEX1)
XR_001744843.2:n.5278C>A (GATAD1)
XR_242246.5:n.3061G>T (PEX1)
XR_927494.3:n.4129C>A (GATAD1)
XR_927503.3:n.4060C>A (GATAD1)
NM_000466.3:c.3014G>T (PEX1) MANE Select NP_000457.1:p.Cys1005Phe
NM_001282677.2:c.2843G>T (PEX1) NP_001269606.1:p.Cys948Phe
NM_001282678.2:c.2390G>T (PEX1) NP_001269607.1:p.Cys797Phe