Canonical Allele Identifier: CA1725935123
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs1791826174

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92499636T>C , CM000669.2:g.92499636T>C GRCh38
NC_000007.13:g.92128950T>C , CM000669.1:g.92128950T>C GRCh37
NC_000007.12:g.91966886T>C NCBI36
NG_008341.1:g.33896A>G
NG_008341.2:g.33896A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2718+68A>G MANE Select ENSP00000248633.4:n.2718+68A>G
ENST00000248633.8:c.2718+68A>G ENSP00000248633.4:n.2718+68A>G
ENST00000428214.5:c.2547+68A>G ENSP00000394413.1:n.2547+68A>G
ENST00000438045.5:c.1752+68A>G ENSP00000410438.1:n.1752+68A>G
ENST00000484913.5:n.2757+68A>G
ENST00000496420.5:n.2610+68A>G
NM_000466.2:c.2718+68A>G NP_000457.1:n.2718+68A>G
NM_001282677.1:c.2547+68A>G NP_001269606.1:n.2547+68A>G
NM_001282678.1:c.2094+68A>G NP_001269607.1:n.2094+68A>G
XM_005250433.3:c.969+68A>G XP_005250490.1:n.969+68A>G
XR_242246.3:n.2814+68A>G
XM_017012319.2:c.969+68A>G XP_016867808.1:n.969+68A>G
XR_001744808.2:n.1745+68A>G
XR_242246.5:n.2765+68A>G
NM_000466.3:c.2718+68A>G MANE Select NP_000457.1:n.2718+68A>G
NM_001282677.2:c.2547+68A>G NP_001269606.1:n.2547+68A>G
NM_001282678.2:c.2094+68A>G NP_001269607.1:n.2094+68A>G