Canonical Allele Identifier: CA368170746
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 642219
ClinVar RCV Id: RCV001830708
dbSNP Id: rs1585224312
gnomAD v4: 7-92496711-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496711A>G , CM000669.2:g.92496711A>G GRCh38
NC_000007.13:g.92126025A>G , CM000669.1:g.92126025A>G GRCh37
NC_000007.12:g.91963961A>G NCBI36
NG_008341.1:g.36821T>C
NG_008341.2:g.36821T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2783+2T>C MANE Select ENSP00000248633.4:n.2783+2T>C
ENST00000248633.8:c.2783+2T>C ENSP00000248633.4:n.2783+2T>C
ENST00000428214.5:c.2612+2T>C ENSP00000394413.1:n.2612+2T>C
ENST00000438045.5:c.1817+2T>C ENSP00000410438.1:n.1817+2T>C
ENST00000484913.5:n.2822+2T>C
ENST00000496420.5:n.2675+2T>C
NM_000466.2:c.2783+2T>C NP_000457.1:n.2783+2T>C
NM_001282677.1:c.2612+2T>C NP_001269606.1:n.2612+2T>C
NM_001282678.1:c.2159+2T>C NP_001269607.1:n.2159+2T>C
XM_005250433.3:c.1034+2T>C XP_005250490.1:n.1034+2T>C
XR_242246.3:n.2879+2T>C
XM_017012319.2:c.1034+2T>C XP_016867808.1:n.1034+2T>C
XR_001744808.2:n.1810+2T>C
XR_242246.5:n.2830+2T>C
NM_000466.3:c.2783+2T>C MANE Select NP_000457.1:n.2783+2T>C
NM_001282677.2:c.2612+2T>C NP_001269606.1:n.2612+2T>C
NM_001282678.2:c.2159+2T>C NP_001269607.1:n.2159+2T>C