Canonical Allele Identifier: CA3151332492

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501901G= , CM000669.2:g.92501901G=	GRCh38
NC_000007.13:g.92131215G= , CM000669.1:g.92131215G=	GRCh37
NC_000007.12:g.91969151G=	NCBI36
NG_008341.1:g.31631C=
NG_008341.2:g.31631C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2405C= MANE Select	NP_000457.1:p.Ser802=
ENST00000248633.9:c.2405C= MANE Select	ENSP00000248633.4:p.Ser802=
NM_000466.2:c.2405C=	NP_000457.1:p.Ser802=
NM_001282677.1:c.2234C=	NP_001269606.1:p.Ser745=
NM_001282677.2:c.2234C=	NP_001269606.1:p.Ser745=
NM_001282678.1:c.1781C=	NP_001269607.1:p.Ser594=
NM_001282678.2:c.1781C=	NP_001269607.1:p.Ser594=
ENST00000248633.8:c.2405C=	ENSP00000248633.4:p.Ser802=
ENST00000428214.5:c.2234C=	ENSP00000394413.1:p.Ser745=
ENST00000438045.5:c.1439C=	ENSP00000410438.1:p.Ser480=
ENST00000484913.5:n.2444C=
ENST00000496092.1:n.203C=
ENST00000496420.5:n.2081C=
XM_005250433.3:c.656C=	XP_005250490.1:p.Ser219=
XM_017012319.2:c.656C=	XP_016867808.1:p.Ser219=
XR_001744808.2:n.1432C=
XR_242246.3:n.2501C=
XR_242246.5:n.2452C=