Canonical Allele Identifier: CA325134483

Gene: PPARA

Linked Data

• dbSNP Id: rs897437131
• gnomAD v2: 22-46610001-A-T
• gnomAD v3: 22-46214104-A-T
• gnomAD v4: 22-46214104-A-T
• MyVariant Identifiers: chr22:g.46610001A>T (hg19) ; chr22:g.46214104A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46214104A>T , CM000684.2:g.46214104A>T	GRCh38
NC_000022.10:g.46610001A>T , CM000684.1:g.46610001A>T	GRCh37
NC_000022.9:g.44988665A>T	NCBI36
NG_012204.1:g.68503A>T
NG_012204.2:g.68571A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000407236.6:c.209-1069A>T MANE Select	ENSP00000385523.1:n.209-1069A>T
ENST00000262735.9:c.209-1069A>T	ENSP00000262735.5:n.209-1069A>T
ENST00000402126.1:c.209-1069A>T	ENSP00000385246.1:n.209-1069A>T
ENST00000407236.5:c.209-1069A>T	ENSP00000385523.1:n.209-1069A>T
ENST00000420804.5:c.209-1069A>T	ENSP00000414752.1:n.209-1069A>T
ENST00000493286.1:n.419-1069A>T
NM_001001928.2:c.209-1069A>T	NP_001001928.1:n.209-1069A>T
NM_005036.4:c.209-1069A>T	NP_005027.2:n.209-1069A>T
XM_005261655.2:c.209-1069A>T	XP_005261712.1:n.209-1069A>T
XM_005261656.2:c.209-1069A>T	XP_005261713.1:n.209-1069A>T
XM_006724269.2:c.209-1069A>T	XP_006724332.1:n.209-1069A>T
XM_006724270.2:c.209-1069A>T	XP_006724333.1:n.209-1069A>T
XM_011530239.1:c.209-1069A>T	XP_011528541.1:n.209-1069A>T
XM_011530240.1:c.209-1069A>T	XP_011528542.1:n.209-1069A>T
XM_011530241.1:c.209-1069A>T	XP_011528543.1:n.209-1069A>T
XM_011530242.1:c.209-1069A>T	XP_011528544.1:n.209-1069A>T
XM_011530243.1:c.209-1069A>T	XP_011528545.1:n.209-1069A>T
XM_011530244.1:c.-198-1069A>T	XP_011528546.1:n.-198-1069A>T
XM_011530245.1:c.-198-1069A>T	XP_011528547.1:n.-198-1069A>T
XR_937869.1:n.524-1069A>T
XR_937870.1:n.523-1069A>T
NM_001001928.3:c.209-1069A>T	NP_001001928.1:n.209-1069A>T
NM_001362872.1:c.209-1069A>T	NP_001349801.1:n.209-1069A>T
NM_001362873.1:c.209-1069A>T	NP_001349802.1:n.209-1069A>T
NM_005036.5:c.209-1069A>T	NP_005027.2:n.209-1069A>T
XM_005261656.3:c.209-1069A>T	XP_005261713.1:n.209-1069A>T
XM_006724270.3:c.209-1069A>T	XP_006724333.1:n.209-1069A>T
XM_011530239.2:c.209-1069A>T	XP_011528541.1:n.209-1069A>T
XM_011530240.2:c.209-1069A>T	XP_011528542.1:n.209-1069A>T
XM_011530241.2:c.209-1069A>T	XP_011528543.1:n.209-1069A>T
XM_011530242.2:c.209-1069A>T	XP_011528544.1:n.209-1069A>T
XM_011530243.2:c.209-1069A>T	XP_011528545.1:n.209-1069A>T
XM_011530244.2:c.-198-1069A>T	XP_011528546.1:n.-198-1069A>T
XM_011530245.2:c.-198-1069A>T	XP_011528547.1:n.-198-1069A>T
XM_017028839.1:c.-198-1069A>T	XP_016884328.1:n.-198-1069A>T
XM_024452252.1:c.-198-1069A>T	XP_024308020.1:n.-198-1069A>T
XM_024452253.1:c.-198-1069A>T	XP_024308021.1:n.-198-1069A>T
XR_001755253.1:n.527-1069A>T
XR_937869.2:n.527-1069A>T
XR_937870.2:n.527-1069A>T
NM_001362872.2:c.209-1069A>T	NP_001349801.1:n.209-1069A>T
NM_005036.6:c.209-1069A>T MANE Select	NP_005027.2:n.209-1069A>T
NM_001001928.4:c.209-1069A>T	NP_001001928.1:n.209-1069A>T
NM_001001929.3:c.209-1069A>T	NP_001001929.1:n.209-1069A>T
NM_001362873.3:c.209-1069A>T	NP_001349802.1:n.209-1069A>T
NM_001393941.1:c.209-1069A>T	NP_001380870.1:n.209-1069A>T
NM_001393942.1:c.209-1069A>T	NP_001380871.1:n.209-1069A>T
NM_001393943.1:c.209-1069A>T	NP_001380872.1:n.209-1069A>T
NM_001393944.1:c.209-1069A>T	NP_001380873.1:n.209-1069A>T
NM_001393945.1:c.209-1069A>T	NP_001380874.1:n.209-1069A>T
NM_001393946.1:c.209-1069A>T	NP_001380875.1:n.209-1069A>T
NM_001393947.1:c.209-1069A>T	NP_001380876.1:n.209-1069A>T