Canonical Allele Identifier: CA368190312
Gene: PEX1 HGNC NCBI

Linked Data

gnomAD v4: 7-92511024-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92511024T>A , CM000669.2:g.92511024T>A GRCh38
NC_000007.13:g.92140338T>A , CM000669.1:g.92140338T>A GRCh37
NC_000007.12:g.91978274T>A NCBI36
NG_008341.1:g.22508A>T
NG_008341.2:g.22508A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1507A>T MANE Select ENSP00000248633.4:p.Ile503Leu
ENST00000248633.8:c.1507A>T ENSP00000248633.4:p.Ile503Leu
ENST00000422866.1:c.408A>T
ENST00000428214.5:c.1507A>T ENSP00000394413.1:p.Ile503Leu
ENST00000438045.5:c.541A>T ENSP00000410438.1:p.Ile181Leu
ENST00000476923.1:n.268A>T
ENST00000484913.5:n.1546A>T
NM_000466.2:c.1507A>T NP_000457.1:p.Ile503Leu
NM_001282677.1:c.1507A>T NP_001269606.1:p.Ile503Leu
NM_001282678.1:c.883A>T NP_001269607.1:p.Ile295Leu
XM_005250433.3:c.-160A>T XP_005250490.1:n.-160A>T
XR_242246.3:n.1603A>T
XM_017012319.2:c.-160A>T XP_016867808.1:n.-160A>T
XR_001744808.2:n.617A>T
XR_242246.5:n.1554A>T
NM_000466.3:c.1507A>T MANE Select NP_000457.1:p.Ile503Leu
NM_001282677.2:c.1507A>T NP_001269606.1:p.Ile503Leu
NM_001282678.2:c.883A>T NP_001269607.1:p.Ile295Leu