Canonical Allele Identifier: CA368183984
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504864C>A , CM000669.2:g.92504864C>A GRCh38
NC_000007.13:g.92134178C>A , CM000669.1:g.92134178C>A GRCh37
NC_000007.12:g.91972114C>A NCBI36
NG_008341.1:g.28668G>T
NG_008341.2:g.28668G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1939G>T MANE Select ENSP00000248633.4:p.Ala647Ser
ENST00000248633.8:c.1939G>T ENSP00000248633.4:p.Ala647Ser
ENST00000428214.5:c.1900+1384G>T ENSP00000394413.1:n.1900+1384G>T
ENST00000438045.5:c.973G>T ENSP00000410438.1:p.Ala325Ser
ENST00000484913.5:n.1978G>T
ENST00000496420.5:n.1615G>T
NM_000466.2:c.1939G>T NP_000457.1:p.Ala647Ser
NM_001282677.1:c.1900+1384G>T NP_001269606.1:n.1900+1384G>T
NM_001282678.1:c.1315G>T NP_001269607.1:p.Ala439Ser
XM_005250433.3:c.190G>T XP_005250490.1:p.Ala64Ser
XR_242246.3:n.2035G>T
XM_017012319.2:c.190G>T XP_016867808.1:p.Ala64Ser
XR_001744808.2:n.966G>T
XR_242246.5:n.1986G>T
NM_000466.3:c.1939G>T MANE Select NP_000457.1:p.Ala647Ser
NM_001282677.2:c.1900+1384G>T NP_001269606.1:n.1900+1384G>T
NM_001282678.2:c.1315G>T NP_001269607.1:p.Ala439Ser