Canonical Allele Identifier: CA368173629
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs1791832333

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92499751C>G , CM000669.2:g.92499751C>G GRCh38
NC_000007.13:g.92129065C>G , CM000669.1:g.92129065C>G GRCh37
NC_000007.12:g.91967001C>G NCBI36
NG_008341.1:g.33781G>C
NG_008341.2:g.33781G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2671G>C MANE Select ENSP00000248633.4:p.Ala891Pro
ENST00000248633.8:c.2671G>C ENSP00000248633.4:p.Ala891Pro
ENST00000428214.5:c.2500G>C ENSP00000394413.1:p.Ala834Pro
ENST00000438045.5:c.1705G>C ENSP00000410438.1:p.Ala569Pro
ENST00000484913.5:n.2710G>C
ENST00000496420.5:n.2563G>C
NM_000466.2:c.2671G>C NP_000457.1:p.Ala891Pro
NM_001282677.1:c.2500G>C NP_001269606.1:p.Ala834Pro
NM_001282678.1:c.2047G>C NP_001269607.1:p.Ala683Pro
XM_005250433.3:c.922G>C XP_005250490.1:p.Ala308Pro
XR_242246.3:n.2767G>C
XM_017012319.2:c.922G>C XP_016867808.1:p.Ala308Pro
XR_001744808.2:n.1698G>C
XR_242246.5:n.2718G>C
NM_000466.3:c.2671G>C MANE Select NP_000457.1:p.Ala891Pro
NM_001282677.2:c.2500G>C NP_001269606.1:p.Ala834Pro
NM_001282678.2:c.2047G>C NP_001269607.1:p.Ala683Pro