Canonical Allele Identifier: CA14829476
Gene: PLTP HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.45912053C>G
GRCh37 chr20:g.44540692C>G
gnomAD v2:
20:44540692 C / G
gnomAD v3:
20:45912053 C / G
gnomAD v4:
chr20-45912053-C-G
Joint Max Group AF 0.30923028 (EAS)
Genomes Max Group AF 0.31857132 (EAS)
Exomes Max Group AF 0.20294398 (EAS)
dbSNP:
2294213
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45912053C>G , CM000682.2:g.45912053C>G GRCh38
NC_000020.10:g.44540692C>G , CM000682.1:g.44540692C>G GRCh37
NC_000020.9:g.43974099C>G NCBI36
NG_012115.1:g.5095G>C
NG_012115.2:g.5095G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372431.8:c.-12+26G>C MANE Select ENSP00000361508.3:n.-12+26G>C
ENST00000354050.8:c.-12+26G>C ENSP00000335290.4:n.-12+26G>C
ENST00000372431.7:c.-12+26G>C ENSP00000361508.3:n.-12+26G>C
ENST00000420868.2:c.-12+26G>C ENSP00000411671.2:n.-12+26G>C
NM_001242920.1:c.-12+26G>C NP_001229849.1:n.-12+26G>C
NM_006227.3:c.-12+26G>C NP_006218.1:n.-12+26G>C
NM_182676.2:c.-12+26G>C NP_872617.1:n.-12+26G>C
NM_006227.4:c.-12+26G>C MANE Select NP_006218.1:n.-12+26G>C
NM_001242920.2:c.-12+26G>C NP_001229849.1:n.-12+26G>C
NM_182676.3:c.-12+26G>C NP_872617.1:n.-12+26G>C
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