Canonical Allele Identifier: CA368191643

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511700T>A , CM000669.2:g.92511700T>A	GRCh38
NC_000007.13:g.92141014T>A , CM000669.1:g.92141014T>A	GRCh37
NC_000007.12:g.91978950T>A	NCBI36
NG_008341.1:g.21832A>T
NG_008341.2:g.21832A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.1363A>T MANE Select	NP_000457.1:p.Lys455Ter
ENST00000248633.9:c.1363A>T MANE Select	ENSP00000248633.4:p.Lys455Ter
NM_000466.2:c.1363A>T	NP_000457.1:p.Lys455Ter
NM_001282677.1:c.1363A>T	NP_001269606.1:p.Lys455Ter
NM_001282677.2:c.1363A>T	NP_001269606.1:p.Lys455Ter
NM_001282678.1:c.739A>T	NP_001269607.1:p.Lys247Ter
NM_001282678.2:c.739A>T	NP_001269607.1:p.Lys247Ter
ENST00000248633.8:c.1363A>T	ENSP00000248633.4:p.Lys455Ter
ENST00000422866.1:c.264A>T
ENST00000428214.5:c.1363A>T	ENSP00000394413.1:p.Lys455Ter
ENST00000438045.5:c.397A>T	ENSP00000410438.1:p.Lys133Ter
ENST00000476923.1:n.124A>T
ENST00000484913.5:n.1402A>T
XM_005250433.3:c.-304A>T	XP_005250490.1:n.-304A>T
XM_017012319.2:c.-304A>T	XP_016867808.1:n.-304A>T
XR_001744808.2:n.473A>T
XR_242246.3:n.1459A>T
XR_242246.5:n.1410A>T