Canonical Allele Identifier: CA1725948163

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517961T= , CM000669.2:g.92517961T=	GRCh38
NC_000007.13:g.92147275T= , CM000669.1:g.92147275T=	GRCh37
NC_000007.12:g.91985211T=	NCBI36
NG_008341.1:g.15571A=
NG_008341.2:g.15571A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.554A= MANE Select	ENSP00000248633.4:p.Lys185=
ENST00000248633.8:c.554A=	ENSP00000248633.4:p.Lys185=
ENST00000428214.5:c.554A=	ENSP00000394413.1:p.Lys185=
ENST00000438045.5:c.274-3994A=	ENSP00000410438.1:n.274-3994A=
ENST00000484913.5:n.593A=
NM_000466.2:c.554A=	NP_000457.1:p.Lys185=
NM_001282677.1:c.554A=	NP_001269606.1:p.Lys185=
NM_001282678.1:c.-71A=	NP_001269607.1:n.-71A=
XR_242246.3:n.650A=
XR_242246.5:n.601A=
NM_000466.3:c.554A= MANE Select	NP_000457.1:p.Lys185=
NM_001282677.2:c.554A=	NP_001269606.1:p.Lys185=
NM_001282678.2:c.-71A=	NP_001269607.1:n.-71A=