Canonical Allele Identifier: CA1725937006

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503093G= , CM000669.2:g.92503093G=	GRCh38
NC_000007.13:g.92132407G= , CM000669.1:g.92132407G=	GRCh37
NC_000007.12:g.91970343G=	NCBI36
NG_008341.1:g.30439C=
NG_008341.2:g.30439C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2174C= MANE Select	ENSP00000248633.4:p.Ala725=
ENST00000248633.8:c.2174C=	ENSP00000248633.4:p.Ala725=
ENST00000428214.5:c.2003C=	ENSP00000394413.1:p.Ala668=
ENST00000438045.5:c.1208C=	ENSP00000410438.1:p.Ala403=
ENST00000484913.5:n.2213C=
ENST00000496420.5:n.1850C=
NM_000466.2:c.2174C=	NP_000457.1:p.Ala725=
NM_001282677.1:c.2003C=	NP_001269606.1:p.Ala668=
NM_001282678.1:c.1550C=	NP_001269607.1:p.Ala517=
XM_005250433.3:c.425C=	XP_005250490.1:p.Ala142=
XR_242246.3:n.2270C=
XM_017012319.2:c.425C=	XP_016867808.1:p.Ala142=
XR_001744808.2:n.1201C=
XR_242246.5:n.2221C=
NM_000466.3:c.2174C= MANE Select	NP_000457.1:p.Ala725=
NM_001282677.2:c.2003C=	NP_001269606.1:p.Ala668=
NM_001282678.2:c.1550C=	NP_001269607.1:p.Ala517=