Canonical Allele Identifier: CA409195805

Gene: PLTP

Linked Data

• ClinVar Variation Id: 1469132
• ClinVar RCV Id: RCV001961425
• dbSNP Id: rs2145836768
• MyVariant Identifiers: chr20:g.44534932G>C (hg19) ; chr20:g.45906293G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45906293G>C , CM000682.2:g.45906293G>C	GRCh38
NC_000020.10:g.44534932G>C , CM000682.1:g.44534932G>C	GRCh37
NC_000020.9:g.43968339G>C	NCBI36
NG_012115.1:g.10855C>G
NG_012115.2:g.10855C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372431.8:c.680C>G MANE Select	ENSP00000361508.3:p.Thr227Ser
ENST00000354050.8:c.524C>G	ENSP00000335290.4:p.Thr175Ser
ENST00000372420.5:c.416C>G	ENSP00000361497.1:p.Thr139Ser
ENST00000372431.7:c.680C>G	ENSP00000361508.3:p.Thr227Ser
ENST00000420868.2:c.395C>G	ENSP00000411671.2:p.Thr132Ser
ENST00000477313.5:c.680C>G	ENSP00000417138.1:p.Thr227Ser
NM_001242920.1:c.395C>G	NP_001229849.1:p.Thr132Ser
NM_001242921.1:c.416C>G	NP_001229850.1:p.Thr139Ser
NM_006227.3:c.680C>G	NP_006218.1:p.Thr227Ser
NM_182676.2:c.524C>G	NP_872617.1:p.Thr175Ser
NM_006227.4:c.680C>G MANE Select	NP_006218.1:p.Thr227Ser
NM_001242920.2:c.395C>G	NP_001229849.1:p.Thr132Ser
NM_182676.3:c.524C>G	NP_872617.1:p.Thr175Ser