Canonical Allele Identifier: CA4340984

Linked Data

ClinVar Variation Id: 2074771
ClinVar RCV Id: RCV002982311
dbSNP Id: rs144649949
gnomAD v2: 7-92123848-A-G
gnomAD v3: 7-92494534-A-G
gnomAD v4: 7-92494534-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494534A>G , CM000669.2:g.92494534A>G GRCh38
NC_000007.13:g.92123848A>G , CM000669.1:g.92123848A>G GRCh37
NC_000007.12:g.91961784A>G NCBI36
NG_008341.1:g.38998T>C
NG_008341.2:g.38998T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2879T>C (PEX1) MANE Select ENSP00000248633.4:p.Val960Ala
ENST00000248633.8:c.2879T>C (PEX1) ENSP00000248633.4:p.Val960Ala
ENST00000428214.5:c.2708T>C (PEX1) ENSP00000394413.1:p.Val903Ala
ENST00000438045.5:c.1913T>C (PEX1) ENSP00000410438.1:p.Val638Ala
ENST00000484913.5:n.2918T>C (PEX1)
ENST00000496420.5:n.2771T>C (PEX1)
NM_000466.2:c.2879T>C (PEX1) NP_000457.1:p.Val960Ala
NM_001282677.1:c.2708T>C (PEX1) NP_001269606.1:p.Val903Ala
NM_001282678.1:c.2255T>C (PEX1) NP_001269607.1:p.Val752Ala
XM_005250433.3:c.1130T>C (PEX1) XP_005250490.1:p.Val377Ala
XR_242246.3:n.2975T>C (PEX1)
XM_017012319.2:c.1130T>C (PEX1) XP_016867808.1:p.Val377Ala
XR_001744808.2:n.1906T>C (PEX1)
XR_001744843.2:n.5503A>G (GATAD1)
XR_242246.5:n.2926T>C (PEX1)
XR_927494.3:n.4354A>G (GATAD1)
XR_927503.3:n.4285A>G (GATAD1)
NM_000466.3:c.2879T>C (PEX1) MANE Select NP_000457.1:p.Val960Ala
NM_001282677.2:c.2708T>C (PEX1) NP_001269606.1:p.Val903Ala
NM_001282678.2:c.2255T>C (PEX1) NP_001269607.1:p.Val752Ala