Canonical Allele Identifier: CA368204843
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522147A>C , CM000669.2:g.92522147A>C GRCh38
NC_000007.13:g.92151461A>C , CM000669.1:g.92151461A>C GRCh37
NC_000007.12:g.91989397A>C NCBI36
NG_008341.1:g.11385T>G
NG_008341.2:g.11385T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.228T>G MANE Select ENSP00000248633.4:p.Ile76Met
ENST00000248633.8:c.228T>G ENSP00000248633.4:p.Ile76Met
ENST00000428214.5:c.228T>G ENSP00000394413.1:p.Ile76Met
ENST00000438045.5:c.228T>G ENSP00000410438.1:p.Ile76Met
ENST00000484913.5:n.232T>G
NM_000466.2:c.228T>G NP_000457.1:p.Ile76Met
NM_001282677.1:c.228T>G NP_001269606.1:p.Ile76Met
NM_001282678.1:c.-432T>G NP_001269607.1:n.-432T>G
XR_242246.3:n.324T>G
XR_242246.5:n.275T>G
NM_000466.3:c.228T>G MANE Select NP_000457.1:p.Ile76Met
NM_001282677.2:c.228T>G NP_001269606.1:p.Ile76Met
NM_001282678.2:c.-432T>G NP_001269607.1:n.-432T>G