Canonical Allele Identifier: CA576309359
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs761455002
gnomAD v2: 7-92151562-A-C
gnomAD v4: 7-92522248-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522248A>C , CM000669.2:g.92522248A>C GRCh38
NC_000007.13:g.92151562A>C , CM000669.1:g.92151562A>C GRCh37
NC_000007.12:g.91989498A>C NCBI36
NG_008341.1:g.11284T>G
NG_008341.2:g.11284T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.130-3T>G MANE Select ENSP00000248633.4:n.130-3T>G
ENST00000248633.8:c.130-3T>G ENSP00000248633.4:n.130-3T>G
ENST00000428214.5:c.130-3T>G ENSP00000394413.1:n.130-3T>G
ENST00000438045.5:c.130-3T>G ENSP00000410438.1:n.130-3T>G
ENST00000484913.5:n.134-3T>G
NM_000466.2:c.130-3T>G NP_000457.1:n.130-3T>G
NM_001282677.1:c.130-3T>G NP_001269606.1:n.130-3T>G
NM_001282678.1:c.-530-3T>G NP_001269607.1:n.-530-3T>G
XR_242246.3:n.226-3T>G
XR_242246.5:n.177-3T>G
NM_000466.3:c.130-3T>G MANE Select NP_000457.1:n.130-3T>G
NM_001282677.2:c.130-3T>G NP_001269606.1:n.130-3T>G
NM_001282678.2:c.-530-3T>G NP_001269607.1:n.-530-3T>G