Canonical Allele Identifier: CA4341680
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs777844104
gnomAD v2: 7-92151595-C-T
gnomAD v3: 7-92522281-C-T
gnomAD v4: 7-92522281-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522281C>T , CM000669.2:g.92522281C>T GRCh38
NC_000007.13:g.92151595C>T , CM000669.1:g.92151595C>T GRCh37
NC_000007.12:g.91989531C>T NCBI36
NG_008341.1:g.11251G>A
NG_008341.2:g.11251G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.130-36G>A MANE Select ENSP00000248633.4:n.130-36G>A
ENST00000248633.8:c.130-36G>A ENSP00000248633.4:n.130-36G>A
ENST00000428214.5:c.130-36G>A ENSP00000394413.1:n.130-36G>A
ENST00000438045.5:c.130-36G>A ENSP00000410438.1:n.130-36G>A
ENST00000484913.5:n.134-36G>A
NM_000466.2:c.130-36G>A NP_000457.1:n.130-36G>A
NM_001282677.1:c.130-36G>A NP_001269606.1:n.130-36G>A
NM_001282678.1:c.-530-36G>A NP_001269607.1:n.-530-36G>A
XR_242246.3:n.226-36G>A
XR_242246.5:n.177-36G>A
NM_000466.3:c.130-36G>A MANE Select NP_000457.1:n.130-36G>A
NM_001282677.2:c.130-36G>A NP_001269606.1:n.130-36G>A
NM_001282678.2:c.-530-36G>A NP_001269607.1:n.-530-36G>A