Canonical Allele Identifier: CA161960410

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502010C>T , CM000669.2:g.92502010C>T	GRCh38
NC_000007.13:g.92131324C>T , CM000669.1:g.92131324C>T	GRCh37
NC_000007.12:g.91969260C>T	NCBI36
NG_008341.1:g.31522G>A
NG_008341.2:g.31522G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2296G>A MANE Select	NP_000457.1:p.Asp766Asn
ENST00000248633.9:c.2296G>A MANE Select	ENSP00000248633.4:p.Asp766Asn
NM_000466.2:c.2296G>A	NP_000457.1:p.Asp766Asn
NM_001282677.1:c.2125G>A	NP_001269606.1:p.Asp709Asn
NM_001282677.2:c.2125G>A	NP_001269606.1:p.Asp709Asn
NM_001282678.1:c.1672G>A	NP_001269607.1:p.Asp558Asn
NM_001282678.2:c.1672G>A	NP_001269607.1:p.Asp558Asn
ENST00000248633.8:c.2296G>A	ENSP00000248633.4:p.Asp766Asn
ENST00000428214.5:c.2125G>A	ENSP00000394413.1:p.Asp709Asn
ENST00000438045.5:c.1330G>A	ENSP00000410438.1:p.Asp444Asn
ENST00000484913.5:n.2335G>A
ENST00000496092.1:n.94G>A
ENST00000496420.5:n.1972G>A
XM_005250433.3:c.547G>A	XP_005250490.1:p.Asp183Asn
XM_017012319.2:c.547G>A	XP_016867808.1:p.Asp183Asn
XR_001744808.2:n.1323G>A
XR_242246.3:n.2392G>A
XR_242246.5:n.2343G>A