Canonical Allele Identifier: CA1725936135

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502028C= , CM000669.2:g.92502028C=	GRCh38
NC_000007.13:g.92131342C= , CM000669.1:g.92131342C=	GRCh37
NC_000007.12:g.91969278C=	NCBI36
NG_008341.1:g.31504G=
NG_008341.2:g.31504G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2278G= MANE Select	ENSP00000248633.4:p.Asp760=
ENST00000248633.8:c.2278G=	ENSP00000248633.4:p.Asp760=
ENST00000428214.5:c.2107G=	ENSP00000394413.1:p.Asp703=
ENST00000438045.5:c.1312G=	ENSP00000410438.1:p.Asp438=
ENST00000484913.5:n.2317G=
ENST00000496092.1:n.76G=
ENST00000496420.5:n.1954G=
NM_000466.2:c.2278G=	NP_000457.1:p.Asp760=
NM_001282677.1:c.2107G=	NP_001269606.1:p.Asp703=
NM_001282678.1:c.1654G=	NP_001269607.1:p.Asp552=
XM_005250433.3:c.529G=	XP_005250490.1:p.Asp177=
XR_242246.3:n.2374G=
XM_017012319.2:c.529G=	XP_016867808.1:p.Asp177=
XR_001744808.2:n.1305G=
XR_242246.5:n.2325G=
NM_000466.3:c.2278G= MANE Select	NP_000457.1:p.Asp760=
NM_001282677.2:c.2107G=	NP_001269606.1:p.Asp703=
NM_001282678.2:c.1654G=	NP_001269607.1:p.Asp552=