Canonical Allele Identifier: CA1725936079

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501906A= , CM000669.2:g.92501906A=	GRCh38
NC_000007.13:g.92131220A= , CM000669.1:g.92131220A=	GRCh37
NC_000007.12:g.91969156A=	NCBI36
NG_008341.1:g.31626T=
NG_008341.2:g.31626T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2400T= MANE Select	ENSP00000248633.4:p.Ser800=
ENST00000248633.8:c.2400T=	ENSP00000248633.4:p.Ser800=
ENST00000428214.5:c.2229T=	ENSP00000394413.1:p.Ser743=
ENST00000438045.5:c.1434T=	ENSP00000410438.1:p.Ser478=
ENST00000484913.5:n.2439T=
ENST00000496092.1:n.198T=
ENST00000496420.5:n.2076T=
NM_000466.2:c.2400T=	NP_000457.1:p.Ser800=
NM_001282677.1:c.2229T=	NP_001269606.1:p.Ser743=
NM_001282678.1:c.1776T=	NP_001269607.1:p.Ser592=
XM_005250433.3:c.651T=	XP_005250490.1:p.Ser217=
XR_242246.3:n.2496T=
XM_017012319.2:c.651T=	XP_016867808.1:p.Ser217=
XR_001744808.2:n.1427T=
XR_242246.5:n.2447T=
NM_000466.3:c.2400T= MANE Select	NP_000457.1:p.Ser800=
NM_001282677.2:c.2229T=	NP_001269606.1:p.Ser743=
NM_001282678.2:c.1776T=	NP_001269607.1:p.Ser592=