Canonical Allele Identifier: CA368198495

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517488G>A , CM000669.2:g.92517488G>A	GRCh38
NC_000007.13:g.92146802G>A , CM000669.1:g.92146802G>A	GRCh37
NC_000007.12:g.91984738G>A	NCBI36
NG_008341.1:g.16044C>T
NG_008341.2:g.16044C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.1027C>T MANE Select	NP_000457.1:p.Gln343Ter
ENST00000248633.9:c.1027C>T MANE Select	ENSP00000248633.4:p.Gln343Ter
NM_000466.2:c.1027C>T	NP_000457.1:p.Gln343Ter
NM_001282677.1:c.1027C>T	NP_001269606.1:p.Gln343Ter
NM_001282677.2:c.1027C>T	NP_001269606.1:p.Gln343Ter
NM_001282678.1:c.403C>T	NP_001269607.1:p.Gln135Ter
NM_001282678.2:c.403C>T	NP_001269607.1:p.Gln135Ter
ENST00000248633.8:c.1027C>T	ENSP00000248633.4:p.Gln343Ter
ENST00000428214.5:c.1027C>T	ENSP00000394413.1:p.Gln343Ter
ENST00000438045.5:c.274-3521C>T	ENSP00000410438.1:n.274-3521C>T
ENST00000484913.5:n.1066C>T
XM_017012319.2:c.-640C>T	XP_016867808.1:n.-640C>T
XR_001744808.2:n.137C>T
XR_242246.3:n.1123C>T
XR_242246.5:n.1074C>T