Canonical Allele Identifier: CA4341539
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs777065672
gnomAD v2: 7-92147039-A-G
gnomAD v4: 7-92517725-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517725A>G , CM000669.2:g.92517725A>G GRCh38
NC_000007.13:g.92147039A>G , CM000669.1:g.92147039A>G GRCh37
NC_000007.12:g.91984975A>G NCBI36
NG_008341.1:g.15807T>C
NG_008341.2:g.15807T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.790T>C MANE Select ENSP00000248633.4:p.Ser264Pro
ENST00000248633.8:c.790T>C ENSP00000248633.4:p.Ser264Pro
ENST00000428214.5:c.790T>C ENSP00000394413.1:p.Ser264Pro
ENST00000438045.5:c.274-3758T>C ENSP00000410438.1:n.274-3758T>C
ENST00000484913.5:n.829T>C
NM_000466.2:c.790T>C NP_000457.1:p.Ser264Pro
NM_001282677.1:c.790T>C NP_001269606.1:p.Ser264Pro
NM_001282678.1:c.166T>C NP_001269607.1:p.Ser56Pro
XR_242246.3:n.886T>C
XR_242246.5:n.837T>C
NM_000466.3:c.790T>C MANE Select NP_000457.1:p.Ser264Pro
NM_001282677.2:c.790T>C NP_001269606.1:p.Ser264Pro
NM_001282678.2:c.166T>C NP_001269607.1:p.Ser56Pro