Canonical Allele Identifier: CA12322406
Gene: PPARD HGNC NCBI

Linked Data

dbSNP Id: rs1053049
gnomAD v2: 6-35395618-C-T
gnomAD v3: 6-35427841-C-T
gnomAD v4: 6-35427841-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35427841C>T , CM000668.2:g.35427841C>T GRCh38
NC_000006.11:g.35395618C>T , CM000668.1:g.35395618C>T GRCh37
NC_000006.10:g.35503596C>T NCBI36
NG_012345.1:g.90284C>T
NG_012345.2:g.90284C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360694.8:c.*1762C>T MANE Select ENSP00000353916.3:n.*1762C>T
ENST00000311565.4:c.*1762C>T ENSP00000310928.4:n.*1762C>T
ENST00000360694.7:c.*1762C>T ENSP00000353916.3:n.*1762C>T
ENST00000418635.6:c.*1762C>T ENSP00000413314.2:n.*1762C>T
ENST00000448077.6:c.*1762C>T ENSP00000414372.2:n.*1762C>T
NM_001171818.1:c.*1762C>T NP_001165289.1:n.*1762C>T
NM_001171819.1:c.*1762C>T NP_001165290.1:n.*1762C>T
NM_001171820.1:c.*1762C>T NP_001165291.1:n.*1762C>T
NM_006238.4:c.*1762C>T NP_006229.1:n.*1762C>T
XM_005249193.1:c.*1762C>T XP_005249250.1:n.*1762C>T
XM_006715120.1:c.*1762C>T XP_006715183.1:n.*1762C>T
XM_006715121.1:c.*1762C>T XP_006715184.1:n.*1762C>T
XM_006715123.1:c.*1762C>T XP_006715186.1:n.*1762C>T
XM_011514707.1:c.*1762C>T XP_011513009.1:n.*1762C>T
XM_011514708.1:c.*1762C>T XP_011513010.1:n.*1762C>T
XM_011514709.1:c.*1762C>T XP_011513011.1:n.*1762C>T
XM_011514710.1:c.*1762C>T XP_011513012.1:n.*1762C>T
XM_011514711.1:c.*1762C>T XP_011513013.1:n.*1762C>T
XM_011514712.1:c.*1762C>T XP_011513014.1:n.*1762C>T
XM_011514713.1:c.*1874C>T XP_011513015.1:n.*1874C>T
XM_017010972.1:c.*1762C>T XP_016866461.1:n.*1762C>T
XM_017010973.1:c.*1762C>T XP_016866462.1:n.*1762C>T
XM_017010974.1:c.*1762C>T XP_016866463.1:n.*1762C>T
XM_024446474.1:c.*1874C>T XP_024302242.1:n.*1874C>T
NM_006238.5:c.*1762C>T MANE Select NP_006229.1:n.*1762C>T
NM_001171818.2:c.*1762C>T NP_001165289.1:n.*1762C>T
NM_001171819.2:c.*1762C>T NP_001165290.1:n.*1762C>T
NM_001171820.2:c.*1762C>T NP_001165291.1:n.*1762C>T