Canonical Allele Identifier: CA2577412580
Gene: PLTP HGNC NCBI

Linked Data

ClinVar Variation Id: 2996548
ClinVar RCV Id: RCV003858683

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45899081G>C , CM000682.2:g.45899081G>C GRCh38
NC_000020.10:g.44527720G>C , CM000682.1:g.44527720G>C GRCh37
NC_000020.9:g.43961127G>C NCBI36
NG_008291.1:g.13130G>C
NG_012115.1:g.18067C>G
NG_012115.2:g.18067C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372431.8:c.1360-18C>G MANE Select ENSP00000361508.3:n.1360-18C>G
ENST00000354050.8:c.1204-18C>G ENSP00000335290.4:n.1204-18C>G
ENST00000372420.5:c.1096-18C>G ENSP00000361497.1:n.1096-18C>G
ENST00000372431.7:c.1360-18C>G ENSP00000361508.3:n.1360-18C>G
ENST00000420868.2:c.1075-18C>G ENSP00000411671.2:n.1075-18C>G
ENST00000477313.5:c.1360-18C>G ENSP00000417138.1:n.1360-18C>G
NM_001242920.1:c.1075-18C>G NP_001229849.1:n.1075-18C>G
NM_001242921.1:c.1096-18C>G NP_001229850.1:n.1096-18C>G
NM_006227.3:c.1360-18C>G NP_006218.1:n.1360-18C>G
NM_182676.2:c.1204-18C>G NP_872617.1:n.1204-18C>G
NM_006227.4:c.1360-18C>G MANE Select NP_006218.1:n.1360-18C>G
NM_001242920.2:c.1075-18C>G NP_001229849.1:n.1075-18C>G
NM_182676.3:c.1204-18C>G NP_872617.1:n.1204-18C>G