Canonical Allele Identifier: CA1725936974

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503070A= , CM000669.2:g.92503070A=	GRCh38
NC_000007.13:g.92132384A= , CM000669.1:g.92132384A=	GRCh37
NC_000007.12:g.91970320A=	NCBI36
NG_008341.1:g.30462T=
NG_008341.2:g.30462T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2197T= MANE Select	ENSP00000248633.4:p.Cys733=
ENST00000248633.8:c.2197T=	ENSP00000248633.4:p.Cys733=
ENST00000428214.5:c.2026T=	ENSP00000394413.1:p.Cys676=
ENST00000438045.5:c.1231T=	ENSP00000410438.1:p.Cys411=
ENST00000484913.5:n.2236T=
ENST00000496420.5:n.1873T=
NM_000466.2:c.2197T=	NP_000457.1:p.Cys733=
NM_001282677.1:c.2026T=	NP_001269606.1:p.Cys676=
NM_001282678.1:c.1573T=	NP_001269607.1:p.Cys525=
XM_005250433.3:c.448T=	XP_005250490.1:p.Cys150=
XR_242246.3:n.2293T=
XM_017012319.2:c.448T=	XP_016867808.1:p.Cys150=
XR_001744808.2:n.1224T=
XR_242246.5:n.2244T=
NM_000466.3:c.2197T= MANE Select	NP_000457.1:p.Cys733=
NM_001282677.2:c.2026T=	NP_001269606.1:p.Cys676=
NM_001282678.2:c.1573T=	NP_001269607.1:p.Cys525=