Canonical Allele Identifier: CA1725936103

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501953T= , CM000669.2:g.92501953T=	GRCh38
NC_000007.13:g.92131267T= , CM000669.1:g.92131267T=	GRCh37
NC_000007.12:g.91969203T=	NCBI36
NG_008341.1:g.31579A=
NG_008341.2:g.31579A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2353A= MANE Select	ENSP00000248633.4:p.Thr785=
ENST00000248633.8:c.2353A=	ENSP00000248633.4:p.Thr785=
ENST00000428214.5:c.2182A=	ENSP00000394413.1:p.Thr728=
ENST00000438045.5:c.1387A=	ENSP00000410438.1:p.Thr463=
ENST00000484913.5:n.2392A=
ENST00000496092.1:n.151A=
ENST00000496420.5:n.2029A=
NM_000466.2:c.2353A=	NP_000457.1:p.Thr785=
NM_001282677.1:c.2182A=	NP_001269606.1:p.Thr728=
NM_001282678.1:c.1729A=	NP_001269607.1:p.Thr577=
XM_005250433.3:c.604A=	XP_005250490.1:p.Thr202=
XR_242246.3:n.2449A=
XM_017012319.2:c.604A=	XP_016867808.1:p.Thr202=
XR_001744808.2:n.1380A=
XR_242246.5:n.2400A=
NM_000466.3:c.2353A= MANE Select	NP_000457.1:p.Thr785=
NM_001282677.2:c.2182A=	NP_001269606.1:p.Thr728=
NM_001282678.2:c.1729A=	NP_001269607.1:p.Thr577=