Canonical Allele Identifier: CA2499219054
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1128004
ClinVar RCV Id: RCV001460625
dbSNP Id: rs2116164620
gnomAD v4: 7-92504723-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504723T>C , CM000669.2:g.92504723T>C GRCh38
NC_000007.13:g.92134037T>C , CM000669.1:g.92134037T>C GRCh37
NC_000007.12:g.91971973T>C NCBI36
NG_008341.1:g.28809A>G
NG_008341.2:g.28809A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2071+9A>G MANE Select ENSP00000248633.4:n.2071+9A>G
ENST00000248633.8:c.2071+9A>G ENSP00000248633.4:n.2071+9A>G
ENST00000428214.5:c.1900+1525A>G ENSP00000394413.1:n.1900+1525A>G
ENST00000438045.5:c.1105+9A>G ENSP00000410438.1:n.1105+9A>G
ENST00000484913.5:n.2110+9A>G
ENST00000496420.5:n.1747+9A>G
NM_000466.2:c.2071+9A>G NP_000457.1:n.2071+9A>G
NM_001282677.1:c.1900+1525A>G NP_001269606.1:n.1900+1525A>G
NM_001282678.1:c.1447+9A>G NP_001269607.1:n.1447+9A>G
XM_005250433.3:c.322+9A>G XP_005250490.1:n.322+9A>G
XR_242246.3:n.2167+9A>G
XM_017012319.2:c.322+9A>G XP_016867808.1:n.322+9A>G
XR_001744808.2:n.1098+9A>G
XR_242246.5:n.2118+9A>G
NM_000466.3:c.2071+9A>G MANE Select NP_000457.1:n.2071+9A>G
NM_001282677.2:c.1900+1525A>G NP_001269606.1:n.1900+1525A>G
NM_001282678.2:c.1447+9A>G NP_001269607.1:n.1447+9A>G