Canonical Allele Identifier: CA368185209
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506314T>G , CM000669.2:g.92506314T>G GRCh38
NC_000007.13:g.92135628T>G , CM000669.1:g.92135628T>G GRCh37
NC_000007.12:g.91973564T>G NCBI36
NG_008341.1:g.27218A>C
NG_008341.2:g.27218A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1834A>C MANE Select ENSP00000248633.4:p.Ile612Leu
ENST00000248633.8:c.1834A>C ENSP00000248633.4:p.Ile612Leu
ENST00000422866.1:c.652A>C
ENST00000428214.5:c.1834A>C ENSP00000394413.1:p.Ile612Leu
ENST00000438045.5:c.868A>C ENSP00000410438.1:p.Ile290Leu
ENST00000484913.5:n.1873A>C
ENST00000496420.5:n.1510A>C
NM_000466.2:c.1834A>C NP_000457.1:p.Ile612Leu
NM_001282677.1:c.1834A>C NP_001269606.1:p.Ile612Leu
NM_001282678.1:c.1210A>C NP_001269607.1:p.Ile404Leu
XM_005250433.3:c.85A>C XP_005250490.1:p.Ile29Leu
XR_242246.3:n.1930A>C
XM_017012319.2:c.85A>C XP_016867808.1:p.Ile29Leu
XR_001744808.2:n.861A>C
XR_242246.5:n.1881A>C
NM_000466.3:c.1834A>C MANE Select NP_000457.1:p.Ile612Leu
NM_001282677.2:c.1834A>C NP_001269606.1:p.Ile612Leu
NM_001282678.2:c.1210A>C NP_001269607.1:p.Ile404Leu