Canonical Allele Identifier: CA9853186
Gene: LBP HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.38373117T>C
GRCh37 chr20:g.37001761T>C
Revel Score:
ENST00000217407 (MANE Select) 0.015
ENST00000538599 0.015
gnomAD v2:
20:37001761 T / C
gnomAD v3:
20:38373117 T / C
gnomAD v4:
chr20-38373117-T-C
Joint Max Group AF 0.19766985 (AFR)
Genomes Max Group AF 0.19756712 (AFR)
Exomes Max Group AF 0.19533052 (AFR)
dbSNP:
2232618
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.38373117T>C , CM000682.2:g.38373117T>C GRCh38
NC_000020.10:g.37001761T>C , CM000682.1:g.37001761T>C GRCh37
NC_000020.9:g.36435175T>C NCBI36
NG_034239.1:g.31707T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217407.3:c.1306T>C MANE Select ENSP00000217407.2:p.Phe436Leu
ENST00000217407.2:c.1306T>C ENSP00000217407.2:p.Phe436Leu
NM_004139.4:c.1306T>C NP_004130.2:p.Phe436Leu
NM_004139.5:c.1306T>C MANE Select NP_004130.2:p.Phe436Leu
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