Canonical Allele Identifier: CA368178807

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502073T>A , CM000669.2:g.92502073T>A	GRCh38
NC_000007.13:g.92131387T>A , CM000669.1:g.92131387T>A	GRCh37
NC_000007.12:g.91969323T>A	NCBI36
NG_008341.1:g.31459A>T
NG_008341.2:g.31459A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2233A>T MANE Select	NP_000457.1:p.Arg745Ter
ENST00000248633.9:c.2233A>T MANE Select	ENSP00000248633.4:p.Arg745Ter
NM_000466.2:c.2233A>T	NP_000457.1:p.Arg745Ter
NM_001282677.1:c.2062A>T	NP_001269606.1:p.Arg688Ter
NM_001282677.2:c.2062A>T	NP_001269606.1:p.Arg688Ter
NM_001282678.1:c.1609A>T	NP_001269607.1:p.Arg537Ter
NM_001282678.2:c.1609A>T	NP_001269607.1:p.Arg537Ter
ENST00000248633.8:c.2233A>T	ENSP00000248633.4:p.Arg745Ter
ENST00000428214.5:c.2062A>T	ENSP00000394413.1:p.Arg688Ter
ENST00000438045.5:c.1267A>T	ENSP00000410438.1:p.Arg423Ter
ENST00000484913.5:n.2272A>T
ENST00000496092.1:n.31A>T
ENST00000496420.5:n.1909A>T
XM_005250433.3:c.484A>T	XP_005250490.1:p.Arg162Ter
XM_017012319.2:c.484A>T	XP_016867808.1:p.Arg162Ter
XR_001744808.2:n.1260A>T
XR_242246.3:n.2329A>T
XR_242246.5:n.2280A>T