Canonical Allele Identifier: CA9883871

Gene: PLTP

Linked Data

• ClinVar Variation Id: 2742132
• ClinVar RCV Id: RCV003557880 ; RCV003946740
• dbSNP Id: rs559294797
• ExAC: 20:44538175 C / T
• gnomAD v2: 20-44538175-C-T
• gnomAD v3: 20-45909536-C-T
• gnomAD v4: 20-45909536-C-T
• MyVariant Identifiers: chr20:g.44538175C>T (hg19) ; chr20:g.45909536C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45909536C>T , CM000682.2:g.45909536C>T	GRCh38
NC_000020.10:g.44538175C>T , CM000682.1:g.44538175C>T	GRCh37
NC_000020.9:g.43971582C>T	NCBI36
NG_012115.1:g.7612G>A
NG_012115.2:g.7612G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372431.8:c.465G>A MANE Select	ENSP00000361508.3:p.Ala155=
ENST00000354050.8:c.329+406G>A	ENSP00000335290.4:n.329+406G>A
ENST00000372420.5:c.201G>A	ENSP00000361497.1:p.Ala67=
ENST00000372431.7:c.465G>A	ENSP00000361508.3:p.Ala155=
ENST00000420868.2:c.200+1616G>A	ENSP00000411671.2:n.200+1616G>A
ENST00000477313.5:c.465G>A	ENSP00000417138.1:p.Ala155=
NM_001242920.1:c.200+1616G>A	NP_001229849.1:n.200+1616G>A
NM_001242921.1:c.201G>A	NP_001229850.1:p.Ala67=
NM_006227.3:c.465G>A	NP_006218.1:p.Ala155=
NM_182676.2:c.329+406G>A	NP_872617.1:n.329+406G>A
NM_006227.4:c.465G>A MANE Select	NP_006218.1:p.Ala155=
NM_001242920.2:c.200+1616G>A	NP_001229849.1:n.200+1616G>A
NM_182676.3:c.329+406G>A	NP_872617.1:n.329+406G>A