Canonical Allele Identifier: CA1725933303

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496711A= , CM000669.2:g.92496711A=	GRCh38
NC_000007.13:g.92126025A= , CM000669.1:g.92126025A=	GRCh37
NC_000007.12:g.91963961A=	NCBI36
NG_008341.1:g.36821T=
NG_008341.2:g.36821T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2783+2T= MANE Select	ENSP00000248633.4:n.2783+2T=
ENST00000248633.8:c.2783+2T=	ENSP00000248633.4:n.2783+2T=
ENST00000428214.5:c.2612+2T=	ENSP00000394413.1:n.2612+2T=
ENST00000438045.5:c.1817+2T=	ENSP00000410438.1:n.1817+2T=
ENST00000484913.5:n.2822+2T=
ENST00000496420.5:n.2675+2T=
NM_000466.2:c.2783+2T=	NP_000457.1:n.2783+2T=
NM_001282677.1:c.2612+2T=	NP_001269606.1:n.2612+2T=
NM_001282678.1:c.2159+2T=	NP_001269607.1:n.2159+2T=
XM_005250433.3:c.1034+2T=	XP_005250490.1:n.1034+2T=
XR_242246.3:n.2879+2T=
XM_017012319.2:c.1034+2T=	XP_016867808.1:n.1034+2T=
XR_001744808.2:n.1810+2T=
XR_242246.5:n.2830+2T=
NM_000466.3:c.2783+2T= MANE Select	NP_000457.1:n.2783+2T=
NM_001282677.2:c.2612+2T=	NP_001269606.1:n.2612+2T=
NM_001282678.2:c.2159+2T=	NP_001269607.1:n.2159+2T=