Canonical Allele Identifier: CA1725949339

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519048A= , CM000669.2:g.92519048A=	GRCh38
NC_000007.13:g.92148362A= , CM000669.1:g.92148362A=	GRCh37
NC_000007.12:g.91986298A=	NCBI36
NG_008341.1:g.14484T=
NG_008341.2:g.14484T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.304T= MANE Select	ENSP00000248633.4:p.Ser102=
ENST00000248633.8:c.304T=	ENSP00000248633.4:p.Ser102=
ENST00000428214.5:c.304T=	ENSP00000394413.1:p.Ser102=
ENST00000438045.5:c.273+3054T=	ENSP00000410438.1:n.273+3054T=
ENST00000484913.5:n.308T=
NM_000466.2:c.304T=	NP_000457.1:p.Ser102=
NM_001282677.1:c.304T=	NP_001269606.1:p.Ser102=
NM_001282678.1:c.-356T=	NP_001269607.1:n.-356T=
XR_242246.3:n.400T=
XR_242246.5:n.351T=
NM_000466.3:c.304T= MANE Select	NP_000457.1:p.Ser102=
NM_001282677.2:c.304T=	NP_001269606.1:p.Ser102=
NM_001282678.2:c.-356T=	NP_001269607.1:n.-356T=