Canonical Allele Identifier: CA368171238
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496773G>A , CM000669.2:g.92496773G>A GRCh38
NC_000007.13:g.92126087G>A , CM000669.1:g.92126087G>A GRCh37
NC_000007.12:g.91964023G>A NCBI36
NG_008341.1:g.36759C>T
NG_008341.2:g.36759C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2723C>T MANE Select ENSP00000248633.4:p.Pro908Leu
ENST00000248633.8:c.2723C>T ENSP00000248633.4:p.Pro908Leu
ENST00000428214.5:c.2552C>T ENSP00000394413.1:p.Pro851Leu
ENST00000438045.5:c.1757C>T ENSP00000410438.1:p.Pro586Leu
ENST00000484913.5:n.2762C>T
ENST00000496420.5:n.2615C>T
NM_000466.2:c.2723C>T NP_000457.1:p.Pro908Leu
NM_001282677.1:c.2552C>T NP_001269606.1:p.Pro851Leu
NM_001282678.1:c.2099C>T NP_001269607.1:p.Pro700Leu
XM_005250433.3:c.974C>T XP_005250490.1:p.Pro325Leu
XR_242246.3:n.2819C>T
XM_017012319.2:c.974C>T XP_016867808.1:p.Pro325Leu
XR_001744808.2:n.1750C>T
XR_242246.5:n.2770C>T
NM_000466.3:c.2723C>T MANE Select NP_000457.1:p.Pro908Leu
NM_001282677.2:c.2552C>T NP_001269606.1:p.Pro851Leu
NM_001282678.2:c.2099C>T NP_001269607.1:p.Pro700Leu