Canonical Allele Identifier: CA368198797

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517560G>A , CM000669.2:g.92517560G>A	GRCh38
NC_000007.13:g.92146874G>A , CM000669.1:g.92146874G>A	GRCh37
NC_000007.12:g.91984810G>A	NCBI36
NG_008341.1:g.15972C>T
NG_008341.2:g.15972C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.955C>T MANE Select	NP_000457.1:p.Gln319Ter
ENST00000248633.9:c.955C>T MANE Select	ENSP00000248633.4:p.Gln319Ter
NM_000466.2:c.955C>T	NP_000457.1:p.Gln319Ter
NM_001282677.1:c.955C>T	NP_001269606.1:p.Gln319Ter
NM_001282677.2:c.955C>T	NP_001269606.1:p.Gln319Ter
NM_001282678.1:c.331C>T	NP_001269607.1:p.Gln111Ter
NM_001282678.2:c.331C>T	NP_001269607.1:p.Gln111Ter
ENST00000248633.8:c.955C>T	ENSP00000248633.4:p.Gln319Ter
ENST00000428214.5:c.955C>T	ENSP00000394413.1:p.Gln319Ter
ENST00000438045.5:c.274-3593C>T	ENSP00000410438.1:n.274-3593C>T
ENST00000484913.5:n.994C>T
XM_017012319.2:c.-712C>T	XP_016867808.1:n.-712C>T
XR_001744808.2:n.65C>T
XR_242246.3:n.1051C>T
XR_242246.5:n.1002C>T