Canonical Allele Identifier: CA368188690
Gene: PEX1 HGNC NCBI

Linked Data

gnomAD v4: 7-92510947-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92510947T>C , CM000669.2:g.92510947T>C GRCh38
NC_000007.13:g.92140261T>C , CM000669.1:g.92140261T>C GRCh37
NC_000007.12:g.91978197T>C NCBI36
NG_008341.1:g.22585A>G
NG_008341.2:g.22585A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1584A>G MANE Select ENSP00000248633.4:p.Ile528Met
ENST00000248633.8:c.1584A>G ENSP00000248633.4:p.Ile528Met
ENST00000422866.1:c.485A>G
ENST00000428214.5:c.1584A>G ENSP00000394413.1:p.Ile528Met
ENST00000438045.5:c.618A>G ENSP00000410438.1:p.Ile206Met
ENST00000476923.1:n.345A>G
ENST00000484913.5:n.1623A>G
NM_000466.2:c.1584A>G NP_000457.1:p.Ile528Met
NM_001282677.1:c.1584A>G NP_001269606.1:p.Ile528Met
NM_001282678.1:c.960A>G NP_001269607.1:p.Ile320Met
XM_005250433.3:c.-83A>G XP_005250490.1:n.-83A>G
XR_242246.3:n.1680A>G
XM_017012319.2:c.-83A>G XP_016867808.1:n.-83A>G
XR_001744808.2:n.694A>G
XR_242246.5:n.1631A>G
NM_000466.3:c.1584A>G MANE Select NP_000457.1:p.Ile528Met
NM_001282677.2:c.1584A>G NP_001269606.1:p.Ile528Met
NM_001282678.2:c.960A>G NP_001269607.1:p.Ile320Met