Canonical Allele Identifier: CA1725937170

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503183A= , CM000669.2:g.92503183A=	GRCh38
NC_000007.13:g.92132497A= , CM000669.1:g.92132497A=	GRCh37
NC_000007.12:g.91970433A=	NCBI36
NG_008341.1:g.30349T=
NG_008341.2:g.30349T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2084T= MANE Select	ENSP00000248633.4:p.Met695=
ENST00000248633.8:c.2084T=	ENSP00000248633.4:p.Met695=
ENST00000428214.5:c.1913T=	ENSP00000394413.1:p.Met638=
ENST00000438045.5:c.1118T=	ENSP00000410438.1:p.Met373=
ENST00000484913.5:n.2123T=
ENST00000496420.5:n.1760T=
NM_000466.2:c.2084T=	NP_000457.1:p.Met695=
NM_001282677.1:c.1913T=	NP_001269606.1:p.Met638=
NM_001282678.1:c.1460T=	NP_001269607.1:p.Met487=
XM_005250433.3:c.335T=	XP_005250490.1:p.Met112=
XR_242246.3:n.2180T=
XM_017012319.2:c.335T=	XP_016867808.1:p.Met112=
XR_001744808.2:n.1111T=
XR_242246.5:n.2131T=
NM_000466.3:c.2084T= MANE Select	NP_000457.1:p.Met695=
NM_001282677.2:c.1913T=	NP_001269606.1:p.Met638=
NM_001282678.2:c.1460T=	NP_001269607.1:p.Met487=