Canonical Allele Identifier: CA1725938638
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs1792093151
gnomAD v3: 7-92504697-G-A
gnomAD v4: 7-92504697-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504697G>A , CM000669.2:g.92504697G>A GRCh38
NC_000007.13:g.92134011G>A , CM000669.1:g.92134011G>A GRCh37
NC_000007.12:g.91971947G>A NCBI36
NG_008341.1:g.28835C>T
NG_008341.2:g.28835C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2071+35C>T MANE Select ENSP00000248633.4:n.2071+35C>T
ENST00000248633.8:c.2071+35C>T ENSP00000248633.4:n.2071+35C>T
ENST00000428214.5:c.1901-1502C>T ENSP00000394413.1:n.1901-1502C>T
ENST00000438045.5:c.1105+35C>T ENSP00000410438.1:n.1105+35C>T
ENST00000484913.5:n.2110+35C>T
ENST00000496420.5:n.1747+35C>T
NM_000466.2:c.2071+35C>T NP_000457.1:n.2071+35C>T
NM_001282677.1:c.1901-1502C>T NP_001269606.1:n.1901-1502C>T
NM_001282678.1:c.1447+35C>T NP_001269607.1:n.1447+35C>T
XM_005250433.3:c.322+35C>T XP_005250490.1:n.322+35C>T
XR_242246.3:n.2167+35C>T
XM_017012319.2:c.322+35C>T XP_016867808.1:n.322+35C>T
XR_001744808.2:n.1098+35C>T
XR_242246.5:n.2118+35C>T
NM_000466.3:c.2071+35C>T MANE Select NP_000457.1:n.2071+35C>T
NM_001282677.2:c.1901-1502C>T NP_001269606.1:n.1901-1502C>T
NM_001282678.2:c.1447+35C>T NP_001269607.1:n.1447+35C>T