Canonical Allele Identifier: CA368178071
Gene: PEX1 HGNC NCBI

Linked Data

gnomAD v4: 7-92502007-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92502007G>A , CM000669.2:g.92502007G>A GRCh38
NC_000007.13:g.92131321G>A , CM000669.1:g.92131321G>A GRCh37
NC_000007.12:g.91969257G>A NCBI36
NG_008341.1:g.31525C>T
NG_008341.2:g.31525C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2299C>T MANE Select ENSP00000248633.4:p.Leu767Phe
ENST00000248633.8:c.2299C>T ENSP00000248633.4:p.Leu767Phe
ENST00000428214.5:c.2128C>T ENSP00000394413.1:p.Leu710Phe
ENST00000438045.5:c.1333C>T ENSP00000410438.1:p.Leu445Phe
ENST00000484913.5:n.2338C>T
ENST00000496092.1:n.97C>T
ENST00000496420.5:n.1975C>T
NM_000466.2:c.2299C>T NP_000457.1:p.Leu767Phe
NM_001282677.1:c.2128C>T NP_001269606.1:p.Leu710Phe
NM_001282678.1:c.1675C>T NP_001269607.1:p.Leu559Phe
XM_005250433.3:c.550C>T XP_005250490.1:p.Leu184Phe
XR_242246.3:n.2395C>T
XM_017012319.2:c.550C>T XP_016867808.1:p.Leu184Phe
XR_001744808.2:n.1326C>T
XR_242246.5:n.2346C>T
NM_000466.3:c.2299C>T MANE Select NP_000457.1:p.Leu767Phe
NM_001282677.2:c.2128C>T NP_001269606.1:p.Leu710Phe
NM_001282678.2:c.1675C>T NP_001269607.1:p.Leu559Phe