Canonical Allele Identifier: CA456484093
Gene: PEX1 HGNC NCBI

Linked Data

gnomAD v4: 7-92522150-T-C
MyVariant Identifiers: chr7:g.92151464T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522150T>C , CM000669.2:g.92522150T>C GRCh38
NC_000007.13:g.92151464T>C , CM000669.1:g.92151464T>C GRCh37
NC_000007.12:g.91989400T>C NCBI36
NG_008341.1:g.11382A>G
NG_008341.2:g.11382A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.225A>G MANE Select ENSP00000248633.4:p.Glu75=
ENST00000248633.8:c.225A>G ENSP00000248633.4:p.Glu75=
ENST00000428214.5:c.225A>G ENSP00000394413.1:p.Glu75=
ENST00000438045.5:c.225A>G ENSP00000410438.1:p.Glu75=
ENST00000484913.5:n.229A>G
NM_000466.2:c.225A>G NP_000457.1:p.Glu75=
NM_001282677.1:c.225A>G NP_001269606.1:p.Glu75=
NM_001282678.1:c.-435A>G NP_001269607.1:n.-435A>G
XR_242246.3:n.321A>G
XR_242246.5:n.272A>G
NM_000466.3:c.225A>G MANE Select NP_000457.1:p.Glu75=
NM_001282677.2:c.225A>G NP_001269606.1:p.Glu75=
NM_001282678.2:c.-435A>G NP_001269607.1:n.-435A>G