Canonical Allele Identifier: CA1725938945

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504827A= , CM000669.2:g.92504827A=	GRCh38
NC_000007.13:g.92134141A= , CM000669.1:g.92134141A=	GRCh37
NC_000007.12:g.91972077A=	NCBI36
NG_008341.1:g.28705T=
NG_008341.2:g.28705T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1976T= MANE Select	ENSP00000248633.4:p.Val659=
ENST00000248633.8:c.1976T=	ENSP00000248633.4:p.Val659=
ENST00000428214.5:c.1900+1421T=	ENSP00000394413.1:n.1900+1421T=
ENST00000438045.5:c.1010T=	ENSP00000410438.1:p.Val337=
ENST00000484913.5:n.2015T=
ENST00000496420.5:n.1652T=
NM_000466.2:c.1976T=	NP_000457.1:p.Val659=
NM_001282677.1:c.1900+1421T=	NP_001269606.1:n.1900+1421T=
NM_001282678.1:c.1352T=	NP_001269607.1:p.Val451=
XM_005250433.3:c.227T=	XP_005250490.1:p.Val76=
XR_242246.3:n.2072T=
XM_017012319.2:c.227T=	XP_016867808.1:p.Val76=
XR_001744808.2:n.1003T=
XR_242246.5:n.2023T=
NM_000466.3:c.1976T= MANE Select	NP_000457.1:p.Val659=
NM_001282677.2:c.1900+1421T=	NP_001269606.1:n.1900+1421T=
NM_001282678.2:c.1352T=	NP_001269607.1:p.Val451=