Canonical Allele Identifier: CA2683721011

Gene: PEX1

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518933G>T , CM000669.2:g.92518933G>T	GRCh38
NC_000007.13:g.92148247G>T , CM000669.1:g.92148247G>T	GRCh37
NC_000007.12:g.91986183G>T	NCBI36
NG_008341.1:g.14599C>A
NG_008341.2:g.14599C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.357+62C>A MANE Select	ENSP00000248633.4:n.357+62C>A
ENST00000248633.8:c.357+62C>A	ENSP00000248633.4:n.357+62C>A
ENST00000428214.5:c.357+62C>A	ENSP00000394413.1:n.357+62C>A
ENST00000438045.5:c.273+3169C>A	ENSP00000410438.1:n.273+3169C>A
ENST00000484913.5:n.396+27C>A
NM_000466.2:c.357+62C>A	NP_000457.1:n.357+62C>A
NM_001282677.1:c.357+62C>A	NP_001269606.1:n.357+62C>A
NM_001282678.1:c.-268+27C>A	NP_001269607.1:n.-268+27C>A
XR_242246.3:n.453+62C>A
XR_242246.5:n.404+62C>A
NM_000466.3:c.357+62C>A MANE Select	NP_000457.1:n.357+62C>A
NM_001282677.2:c.357+62C>A	NP_001269606.1:n.357+62C>A
NM_001282678.2:c.-268+27C>A	NP_001269607.1:n.-268+27C>A