Canonical Allele Identifier: CA1725933370

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496755T= , CM000669.2:g.92496755T=	GRCh38
NC_000007.13:g.92126069T= , CM000669.1:g.92126069T=	GRCh37
NC_000007.12:g.91964005T=	NCBI36
NG_008341.1:g.36777A=
NG_008341.2:g.36777A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2741A= MANE Select	ENSP00000248633.4:p.Tyr914=
ENST00000248633.8:c.2741A=	ENSP00000248633.4:p.Tyr914=
ENST00000428214.5:c.2570A=	ENSP00000394413.1:p.Tyr857=
ENST00000438045.5:c.1775A=	ENSP00000410438.1:p.Tyr592=
ENST00000484913.5:n.2780A=
ENST00000496420.5:n.2633A=
NM_000466.2:c.2741A=	NP_000457.1:p.Tyr914=
NM_001282677.1:c.2570A=	NP_001269606.1:p.Tyr857=
NM_001282678.1:c.2117A=	NP_001269607.1:p.Tyr706=
XM_005250433.3:c.992A=	XP_005250490.1:p.Tyr331=
XR_242246.3:n.2837A=
XM_017012319.2:c.992A=	XP_016867808.1:p.Tyr331=
XR_001744808.2:n.1768A=
XR_242246.5:n.2788A=
NM_000466.3:c.2741A= MANE Select	NP_000457.1:p.Tyr914=
NM_001282677.2:c.2570A=	NP_001269606.1:p.Tyr857=
NM_001282678.2:c.2117A=	NP_001269607.1:p.Tyr706=