Canonical Allele Identifier: CA368190280
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92511018G>A , CM000669.2:g.92511018G>A GRCh38
NC_000007.13:g.92140332G>A , CM000669.1:g.92140332G>A GRCh37
NC_000007.12:g.91978268G>A NCBI36
NG_008341.1:g.22514C>T
NG_008341.2:g.22514C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1513C>T MANE Select ENSP00000248633.4:p.His505Tyr
ENST00000248633.8:c.1513C>T ENSP00000248633.4:p.His505Tyr
ENST00000422866.1:c.414C>T
ENST00000428214.5:c.1513C>T ENSP00000394413.1:p.His505Tyr
ENST00000438045.5:c.547C>T ENSP00000410438.1:p.His183Tyr
ENST00000476923.1:n.274C>T
ENST00000484913.5:n.1552C>T
NM_000466.2:c.1513C>T NP_000457.1:p.His505Tyr
NM_001282677.1:c.1513C>T NP_001269606.1:p.His505Tyr
NM_001282678.1:c.889C>T NP_001269607.1:p.His297Tyr
XM_005250433.3:c.-154C>T XP_005250490.1:n.-154C>T
XR_242246.3:n.1609C>T
XM_017012319.2:c.-154C>T XP_016867808.1:n.-154C>T
XR_001744808.2:n.623C>T
XR_242246.5:n.1560C>T
NM_000466.3:c.1513C>T MANE Select NP_000457.1:p.His505Tyr
NM_001282677.2:c.1513C>T NP_001269606.1:p.His505Tyr
NM_001282678.2:c.889C>T NP_001269607.1:p.His297Tyr