Canonical Allele Identifier: CA3145966724

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496766T= , CM000669.2:g.92496766T=	GRCh38
NC_000007.13:g.92126080T= , CM000669.1:g.92126080T=	GRCh37
NC_000007.12:g.91964016T=	NCBI36
NG_008341.1:g.36766A=
NG_008341.2:g.36766A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2730A= MANE Select	NP_000457.1:p.Leu910=
ENST00000248633.9:c.2730A= MANE Select	ENSP00000248633.4:p.Leu910=
NM_000466.2:c.2730A=	NP_000457.1:p.Leu910=
NM_001282677.1:c.2559A=	NP_001269606.1:p.Leu853=
NM_001282677.2:c.2559A=	NP_001269606.1:p.Leu853=
NM_001282678.1:c.2106A=	NP_001269607.1:p.Leu702=
NM_001282678.2:c.2106A=	NP_001269607.1:p.Leu702=
ENST00000248633.8:c.2730A=	ENSP00000248633.4:p.Leu910=
ENST00000428214.5:c.2559A=	ENSP00000394413.1:p.Leu853=
ENST00000438045.5:c.1764A=	ENSP00000410438.1:p.Leu588=
ENST00000484913.5:n.2769A=
ENST00000496420.5:n.2622A=
XM_005250433.3:c.981A=	XP_005250490.1:p.Leu327=
XM_017012319.2:c.981A=	XP_016867808.1:p.Leu327=
XR_001744808.2:n.1757A=
XR_242246.3:n.2826A=
XR_242246.5:n.2777A=