Canonical Allele Identifier: CA368202688
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518256C>G , CM000669.2:g.92518256C>G GRCh38
NC_000007.13:g.92147570C>G , CM000669.1:g.92147570C>G GRCh37
NC_000007.12:g.91985506C>G NCBI36
NG_008341.1:g.15276G>C
NG_008341.2:g.15276G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.358-1G>C MANE Select ENSP00000248633.4:n.358-1G>C
ENST00000248633.8:c.358-1G>C ENSP00000248633.4:n.358-1G>C
ENST00000428214.5:c.358-1G>C ENSP00000394413.1:n.358-1G>C
ENST00000438045.5:c.273+3846G>C ENSP00000410438.1:n.273+3846G>C
ENST00000484913.5:n.397-1G>C
NM_000466.2:c.358-1G>C NP_000457.1:n.358-1G>C
NM_001282677.1:c.358-1G>C NP_001269606.1:n.358-1G>C
NM_001282678.1:c.-267-1G>C NP_001269607.1:n.-267-1G>C
XR_242246.3:n.454-1G>C
XR_242246.5:n.405-1G>C
NM_000466.3:c.358-1G>C MANE Select NP_000457.1:n.358-1G>C
NM_001282677.2:c.358-1G>C NP_001269606.1:n.358-1G>C
NM_001282678.2:c.-267-1G>C NP_001269607.1:n.-267-1G>C