Canonical Allele Identifier: CA4341681
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs200431374
gnomAD v2: 7-92151596-G-A
gnomAD v3: 7-92522282-G-A
gnomAD v4: 7-92522282-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522282G>A , CM000669.2:g.92522282G>A GRCh38
NC_000007.13:g.92151596G>A , CM000669.1:g.92151596G>A GRCh37
NC_000007.12:g.91989532G>A NCBI36
NG_008341.1:g.11250C>T
NG_008341.2:g.11250C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.130-37C>T MANE Select ENSP00000248633.4:n.130-37C>T
ENST00000248633.8:c.130-37C>T ENSP00000248633.4:n.130-37C>T
ENST00000428214.5:c.130-37C>T ENSP00000394413.1:n.130-37C>T
ENST00000438045.5:c.130-37C>T ENSP00000410438.1:n.130-37C>T
ENST00000484913.5:n.134-37C>T
NM_000466.2:c.130-37C>T NP_000457.1:n.130-37C>T
NM_001282677.1:c.130-37C>T NP_001269606.1:n.130-37C>T
NM_001282678.1:c.-530-37C>T NP_001269607.1:n.-530-37C>T
XR_242246.3:n.226-37C>T
XR_242246.5:n.177-37C>T
NM_000466.3:c.130-37C>T MANE Select NP_000457.1:n.130-37C>T
NM_001282677.2:c.130-37C>T NP_001269606.1:n.130-37C>T
NM_001282678.2:c.-530-37C>T NP_001269607.1:n.-530-37C>T