Canonical Allele Identifier: CA456484014
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs1213704695
gnomAD v3: 7-92519007-A-G
gnomAD v4: 7-92519007-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92519007A>G , CM000669.2:g.92519007A>G GRCh38
NC_000007.13:g.92148321A>G , CM000669.1:g.92148321A>G GRCh37
NC_000007.12:g.91986257A>G NCBI36
NG_008341.1:g.14525T>C
NG_008341.2:g.14525T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.345T>C MANE Select ENSP00000248633.4:p.Asp115=
ENST00000248633.8:c.345T>C ENSP00000248633.4:p.Asp115=
ENST00000428214.5:c.345T>C ENSP00000394413.1:p.Asp115=
ENST00000438045.5:c.273+3095T>C ENSP00000410438.1:n.273+3095T>C
ENST00000484913.5:n.349T>C
NM_000466.2:c.345T>C NP_000457.1:p.Asp115=
NM_001282677.1:c.345T>C NP_001269606.1:p.Asp115=
NM_001282678.1:c.-315T>C NP_001269607.1:n.-315T>C
XR_242246.3:n.441T>C
XR_242246.5:n.392T>C
NM_000466.3:c.345T>C MANE Select NP_000457.1:p.Asp115=
NM_001282677.2:c.345T>C NP_001269606.1:p.Asp115=
NM_001282678.2:c.-315T>C NP_001269607.1:n.-315T>C