Canonical Allele Identifier: CA368167839

Linked Data

dbSNP Id: rs1791534250

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494387A>G , CM000669.2:g.92494387A>G GRCh38
NC_000007.13:g.92123701A>G , CM000669.1:g.92123701A>G GRCh37
NC_000007.12:g.91961637A>G NCBI36
NG_008341.1:g.39145T>C
NG_008341.2:g.39145T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2936T>C (PEX1) MANE Select ENSP00000248633.4:p.Val979Ala
ENST00000248633.8:c.2936T>C (PEX1) ENSP00000248633.4:p.Val979Ala
ENST00000428214.5:c.2765T>C (PEX1) ENSP00000394413.1:p.Val922Ala
ENST00000438045.5:c.1970T>C (PEX1) ENSP00000410438.1:p.Val657Ala
ENST00000484913.5:n.2975T>C (PEX1)
ENST00000496420.5:n.2828T>C (PEX1)
NM_000466.2:c.2936T>C (PEX1) NP_000457.1:p.Val979Ala
NM_001282677.1:c.2765T>C (PEX1) NP_001269606.1:p.Val922Ala
NM_001282678.1:c.2312T>C (PEX1) NP_001269607.1:p.Val771Ala
XM_005250433.3:c.1187T>C (PEX1) XP_005250490.1:p.Val396Ala
XR_242246.3:n.3032T>C (PEX1)
XM_017012319.2:c.1187T>C (PEX1) XP_016867808.1:p.Val396Ala
XR_001744808.2:n.1963T>C (PEX1)
XR_001744843.2:n.5356A>G (GATAD1)
XR_242246.5:n.2983T>C (PEX1)
XR_927494.3:n.4207A>G (GATAD1)
XR_927503.3:n.4138A>G (GATAD1)
NM_000466.3:c.2936T>C (PEX1) MANE Select NP_000457.1:p.Val979Ala
NM_001282677.2:c.2765T>C (PEX1) NP_001269606.1:p.Val922Ala
NM_001282678.2:c.2312T>C (PEX1) NP_001269607.1:p.Val771Ala