Canonical Allele Identifier: CA368171264
Gene: PEX1 HGNC NCBI

Linked Data

gnomAD v4: 7-92496774-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496774G>T , CM000669.2:g.92496774G>T GRCh38
NC_000007.13:g.92126088G>T , CM000669.1:g.92126088G>T GRCh37
NC_000007.12:g.91964024G>T NCBI36
NG_008341.1:g.36758C>A
NG_008341.2:g.36758C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2722C>A MANE Select ENSP00000248633.4:p.Pro908Thr
ENST00000248633.8:c.2722C>A ENSP00000248633.4:p.Pro908Thr
ENST00000428214.5:c.2551C>A ENSP00000394413.1:p.Pro851Thr
ENST00000438045.5:c.1756C>A ENSP00000410438.1:p.Pro586Thr
ENST00000484913.5:n.2761C>A
ENST00000496420.5:n.2614C>A
NM_000466.2:c.2722C>A NP_000457.1:p.Pro908Thr
NM_001282677.1:c.2551C>A NP_001269606.1:p.Pro851Thr
NM_001282678.1:c.2098C>A NP_001269607.1:p.Pro700Thr
XM_005250433.3:c.973C>A XP_005250490.1:p.Pro325Thr
XR_242246.3:n.2818C>A
XM_017012319.2:c.973C>A XP_016867808.1:p.Pro325Thr
XR_001744808.2:n.1749C>A
XR_242246.5:n.2769C>A
NM_000466.3:c.2722C>A MANE Select NP_000457.1:p.Pro908Thr
NM_001282677.2:c.2551C>A NP_001269606.1:p.Pro851Thr
NM_001282678.2:c.2098C>A NP_001269607.1:p.Pro700Thr