Canonical Allele Identifier: CA368183606
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs1792104355

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504827A>G , CM000669.2:g.92504827A>G GRCh38
NC_000007.13:g.92134141A>G , CM000669.1:g.92134141A>G GRCh37
NC_000007.12:g.91972077A>G NCBI36
NG_008341.1:g.28705T>C
NG_008341.2:g.28705T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1976T>C MANE Select ENSP00000248633.4:p.Val659Ala
ENST00000248633.8:c.1976T>C ENSP00000248633.4:p.Val659Ala
ENST00000428214.5:c.1900+1421T>C ENSP00000394413.1:n.1900+1421T>C
ENST00000438045.5:c.1010T>C ENSP00000410438.1:p.Val337Ala
ENST00000484913.5:n.2015T>C
ENST00000496420.5:n.1652T>C
NM_000466.2:c.1976T>C NP_000457.1:p.Val659Ala
NM_001282677.1:c.1900+1421T>C NP_001269606.1:n.1900+1421T>C
NM_001282678.1:c.1352T>C NP_001269607.1:p.Val451Ala
XM_005250433.3:c.227T>C XP_005250490.1:p.Val76Ala
XR_242246.3:n.2072T>C
XM_017012319.2:c.227T>C XP_016867808.1:p.Val76Ala
XR_001744808.2:n.1003T>C
XR_242246.5:n.2023T>C
NM_000466.3:c.1976T>C MANE Select NP_000457.1:p.Val659Ala
NM_001282677.2:c.1900+1421T>C NP_001269606.1:n.1900+1421T>C
NM_001282678.2:c.1352T>C NP_001269607.1:p.Val451Ala