Canonical Allele Identifier: CA4341552
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1036917
dbSNP Id: rs753823218
gnomAD v2: 7-92147108-A-G
gnomAD v3: 7-92517794-A-G
gnomAD v4: 7-92517794-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517794A>G , CM000669.2:g.92517794A>G GRCh38
NC_000007.13:g.92147108A>G , CM000669.1:g.92147108A>G GRCh37
NC_000007.12:g.91985044A>G NCBI36
NG_008341.1:g.15738T>C
NG_008341.2:g.15738T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.721T>C MANE Select ENSP00000248633.4:p.Ser241Pro
ENST00000248633.8:c.721T>C ENSP00000248633.4:p.Ser241Pro
ENST00000428214.5:c.721T>C ENSP00000394413.1:p.Ser241Pro
ENST00000438045.5:c.274-3827T>C ENSP00000410438.1:n.274-3827T>C
ENST00000484913.5:n.760T>C
NM_000466.2:c.721T>C NP_000457.1:p.Ser241Pro
NM_001282677.1:c.721T>C NP_001269606.1:p.Ser241Pro
NM_001282678.1:c.97T>C NP_001269607.1:p.Ser33Pro
XR_242246.3:n.817T>C
XR_242246.5:n.768T>C
NM_000466.3:c.721T>C MANE Select NP_000457.1:p.Ser241Pro
NM_001282677.2:c.721T>C NP_001269606.1:p.Ser241Pro
NM_001282678.2:c.97T>C NP_001269607.1:p.Ser33Pro