Canonical Allele Identifier: CA1725949043

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518754G= , CM000669.2:g.92518754G=	GRCh38
NC_000007.13:g.92148068G= , CM000669.1:g.92148068G=	GRCh37
NC_000007.12:g.91986004G=	NCBI36
NG_008341.1:g.14778C=
NG_008341.2:g.14778C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.357+241C= MANE Select	ENSP00000248633.4:n.357+241C=
ENST00000248633.8:c.357+241C=	ENSP00000248633.4:n.357+241C=
ENST00000428214.5:c.357+241C=	ENSP00000394413.1:n.357+241C=
ENST00000438045.5:c.273+3348C=	ENSP00000410438.1:n.273+3348C=
ENST00000484913.5:n.396+206C=
NM_000466.2:c.357+241C=	NP_000457.1:n.357+241C=
NM_001282677.1:c.357+241C=	NP_001269606.1:n.357+241C=
NM_001282678.1:c.-268+206C=	NP_001269607.1:n.-268+206C=
XR_242246.3:n.453+241C=
XR_242246.5:n.404+241C=
NM_000466.3:c.357+241C= MANE Select	NP_000457.1:n.357+241C=
NM_001282677.2:c.357+241C=	NP_001269606.1:n.357+241C=
NM_001282678.2:c.-268+206C=	NP_001269607.1:n.-268+206C=