Canonical Allele Identifier: CA409198701
Gene: PLTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45907900C>G , CM000682.2:g.45907900C>G GRCh38
NC_000020.10:g.44536539C>G , CM000682.1:g.44536539C>G GRCh37
NC_000020.9:g.43969946C>G NCBI36
NG_012115.1:g.9248G>C
NG_012115.2:g.9248G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372431.8:c.490G>C MANE Select ENSP00000361508.3:p.Val164Leu
ENST00000354050.8:c.334G>C ENSP00000335290.4:p.Val112Leu
ENST00000372420.5:c.226G>C ENSP00000361497.1:p.Val76Leu
ENST00000372431.7:c.490G>C ENSP00000361508.3:p.Val164Leu
ENST00000420868.2:c.205G>C ENSP00000411671.2:p.Val69Leu
ENST00000477313.5:c.490G>C ENSP00000417138.1:p.Val164Leu
NM_001242920.1:c.205G>C NP_001229849.1:p.Val69Leu
NM_001242921.1:c.226G>C NP_001229850.1:p.Val76Leu
NM_006227.3:c.490G>C NP_006218.1:p.Val164Leu
NM_182676.2:c.334G>C NP_872617.1:p.Val112Leu
NM_006227.4:c.490G>C MANE Select NP_006218.1:p.Val164Leu
NM_001242920.2:c.205G>C NP_001229849.1:p.Val69Leu
NM_182676.3:c.334G>C NP_872617.1:p.Val112Leu