Canonical Allele Identifier: CA1725939152

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504887T= , CM000669.2:g.92504887T=	GRCh38
NC_000007.13:g.92134201T= , CM000669.1:g.92134201T=	GRCh37
NC_000007.12:g.91972137T=	NCBI36
NG_008341.1:g.28645A=
NG_008341.2:g.28645A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1916A= MANE Select	ENSP00000248633.4:p.Asn639=
ENST00000248633.8:c.1916A=	ENSP00000248633.4:p.Asn639=
ENST00000422866.1:c.734A=
ENST00000428214.5:c.1900+1361A=	ENSP00000394413.1:n.1900+1361A=
ENST00000438045.5:c.950A=	ENSP00000410438.1:p.Asn317=
ENST00000484913.5:n.1955A=
ENST00000496420.5:n.1592A=
NM_000466.2:c.1916A=	NP_000457.1:p.Asn639=
NM_001282677.1:c.1900+1361A=	NP_001269606.1:n.1900+1361A=
NM_001282678.1:c.1292A=	NP_001269607.1:p.Asn431=
XM_005250433.3:c.167A=	XP_005250490.1:p.Asn56=
XR_242246.3:n.2012A=
XM_017012319.2:c.167A=	XP_016867808.1:p.Asn56=
XR_001744808.2:n.943A=
XR_242246.5:n.1963A=
NM_000466.3:c.1916A= MANE Select	NP_000457.1:p.Asn639=
NM_001282677.2:c.1900+1361A=	NP_001269606.1:n.1900+1361A=
NM_001282678.2:c.1292A=	NP_001269607.1:p.Asn431=