Canonical Allele Identifier: CA368190262
Gene: PEX1 HGNC NCBI

Linked Data

gnomAD v4: 7-92511014-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92511014G>T , CM000669.2:g.92511014G>T GRCh38
NC_000007.13:g.92140328G>T , CM000669.1:g.92140328G>T GRCh37
NC_000007.12:g.91978264G>T NCBI36
NG_008341.1:g.22518C>A
NG_008341.2:g.22518C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1517C>A MANE Select ENSP00000248633.4:p.Ser506Tyr
ENST00000248633.8:c.1517C>A ENSP00000248633.4:p.Ser506Tyr
ENST00000422866.1:c.418C>A
ENST00000428214.5:c.1517C>A ENSP00000394413.1:p.Ser506Tyr
ENST00000438045.5:c.551C>A ENSP00000410438.1:p.Ser184Tyr
ENST00000476923.1:n.278C>A
ENST00000484913.5:n.1556C>A
NM_000466.2:c.1517C>A NP_000457.1:p.Ser506Tyr
NM_001282677.1:c.1517C>A NP_001269606.1:p.Ser506Tyr
NM_001282678.1:c.893C>A NP_001269607.1:p.Ser298Tyr
XM_005250433.3:c.-150C>A XP_005250490.1:n.-150C>A
XR_242246.3:n.1613C>A
XM_017012319.2:c.-150C>A XP_016867808.1:n.-150C>A
XR_001744808.2:n.627C>A
XR_242246.5:n.1564C>A
NM_000466.3:c.1517C>A MANE Select NP_000457.1:p.Ser506Tyr
NM_001282677.2:c.1517C>A NP_001269606.1:p.Ser506Tyr
NM_001282678.2:c.893C>A NP_001269607.1:p.Ser298Tyr