Canonical Allele Identifier: CA1725936096

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501940T= , CM000669.2:g.92501940T=	GRCh38
NC_000007.13:g.92131254T= , CM000669.1:g.92131254T=	GRCh37
NC_000007.12:g.91969190T=	NCBI36
NG_008341.1:g.31592A=
NG_008341.2:g.31592A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2366A= MANE Select	ENSP00000248633.4:p.Asp789=
ENST00000248633.8:c.2366A=	ENSP00000248633.4:p.Asp789=
ENST00000428214.5:c.2195A=	ENSP00000394413.1:p.Asp732=
ENST00000438045.5:c.1400A=	ENSP00000410438.1:p.Asp467=
ENST00000484913.5:n.2405A=
ENST00000496092.1:n.164A=
ENST00000496420.5:n.2042A=
NM_000466.2:c.2366A=	NP_000457.1:p.Asp789=
NM_001282677.1:c.2195A=	NP_001269606.1:p.Asp732=
NM_001282678.1:c.1742A=	NP_001269607.1:p.Asp581=
XM_005250433.3:c.617A=	XP_005250490.1:p.Asp206=
XR_242246.3:n.2462A=
XM_017012319.2:c.617A=	XP_016867808.1:p.Asp206=
XR_001744808.2:n.1393A=
XR_242246.5:n.2413A=
NM_000466.3:c.2366A= MANE Select	NP_000457.1:p.Asp789=
NM_001282677.2:c.2195A=	NP_001269606.1:p.Asp732=
NM_001282678.2:c.1742A=	NP_001269607.1:p.Asp581=