Canonical Allele Identifier: CA1725948614
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs1792895871
gnomAD v4: 7-92518261-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518261A>G , CM000669.2:g.92518261A>G GRCh38
NC_000007.13:g.92147575A>G , CM000669.1:g.92147575A>G GRCh37
NC_000007.12:g.91985511A>G NCBI36
NG_008341.1:g.15271T>C
NG_008341.2:g.15271T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.358-6T>C MANE Select ENSP00000248633.4:n.358-6T>C
ENST00000248633.8:c.358-6T>C ENSP00000248633.4:n.358-6T>C
ENST00000428214.5:c.358-6T>C ENSP00000394413.1:n.358-6T>C
ENST00000438045.5:c.273+3841T>C ENSP00000410438.1:n.273+3841T>C
ENST00000484913.5:n.397-6T>C
NM_000466.2:c.358-6T>C NP_000457.1:n.358-6T>C
NM_001282677.1:c.358-6T>C NP_001269606.1:n.358-6T>C
NM_001282678.1:c.-267-6T>C NP_001269607.1:n.-267-6T>C
XR_242246.3:n.454-6T>C
XR_242246.5:n.405-6T>C
NM_000466.3:c.358-6T>C MANE Select NP_000457.1:n.358-6T>C
NM_001282677.2:c.358-6T>C NP_001269606.1:n.358-6T>C
NM_001282678.2:c.-267-6T>C NP_001269607.1:n.-267-6T>C