Canonical Allele Identifier: CA368178873
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92502078T>G , CM000669.2:g.92502078T>G GRCh38
NC_000007.13:g.92131392T>G , CM000669.1:g.92131392T>G GRCh37
NC_000007.12:g.91969328T>G NCBI36
NG_008341.1:g.31454A>C
NG_008341.2:g.31454A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2228A>C MANE Select ENSP00000248633.4:p.Glu743Ala
ENST00000248633.8:c.2228A>C ENSP00000248633.4:p.Glu743Ala
ENST00000428214.5:c.2057A>C ENSP00000394413.1:p.Glu686Ala
ENST00000438045.5:c.1262A>C ENSP00000410438.1:p.Glu421Ala
ENST00000484913.5:n.2267A>C
ENST00000496092.1:n.26A>C
ENST00000496420.5:n.1904A>C
NM_000466.2:c.2228A>C NP_000457.1:p.Glu743Ala
NM_001282677.1:c.2057A>C NP_001269606.1:p.Glu686Ala
NM_001282678.1:c.1604A>C NP_001269607.1:p.Glu535Ala
XM_005250433.3:c.479A>C XP_005250490.1:p.Glu160Ala
XR_242246.3:n.2324A>C
XM_017012319.2:c.479A>C XP_016867808.1:p.Glu160Ala
XR_001744808.2:n.1255A>C
XR_242246.5:n.2275A>C
NM_000466.3:c.2228A>C MANE Select NP_000457.1:p.Glu743Ala
NM_001282677.2:c.2057A>C NP_001269606.1:p.Glu686Ala
NM_001282678.2:c.1604A>C NP_001269607.1:p.Glu535Ala