Canonical Allele Identifier: CA368199562
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517685T>G , CM000669.2:g.92517685T>G GRCh38
NC_000007.13:g.92146999T>G , CM000669.1:g.92146999T>G GRCh37
NC_000007.12:g.91984935T>G NCBI36
NG_008341.1:g.15847A>C
NG_008341.2:g.15847A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.830A>C MANE Select ENSP00000248633.4:p.Gln277Pro
ENST00000248633.8:c.830A>C ENSP00000248633.4:p.Gln277Pro
ENST00000428214.5:c.830A>C ENSP00000394413.1:p.Gln277Pro
ENST00000438045.5:c.274-3718A>C ENSP00000410438.1:n.274-3718A>C
ENST00000484913.5:n.869A>C
NM_000466.2:c.830A>C NP_000457.1:p.Gln277Pro
NM_001282677.1:c.830A>C NP_001269606.1:p.Gln277Pro
NM_001282678.1:c.206A>C NP_001269607.1:p.Gln69Pro
XR_242246.3:n.926A>C
XR_242246.5:n.877A>C
NM_000466.3:c.830A>C MANE Select NP_000457.1:p.Gln277Pro
NM_001282677.2:c.830A>C NP_001269606.1:p.Gln277Pro
NM_001282678.2:c.206A>C NP_001269607.1:p.Gln69Pro