Canonical Allele Identifier: CA370468375
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19954180A>T
GRCh37 chr8:g.19811691A>T
Revel Score:
ENST00000311322 0.807
ENST00000538071 0.807
ENST00000535763 0.807
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954180A>T , CM000670.2:g.19954180A>T GRCh38
NC_000008.10:g.19811691A>T , CM000670.1:g.19811691A>T GRCh37
NC_000008.9:g.19855971A>T NCBI36
NG_008855.1:g.20110A>T
NG_008855.2:g.57464A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.602A>T MANE Select ENSP00000497642.1:p.Asp201Val
ENST00000311322.8:c.602A>T ENSP00000309757.6:p.Asp201Val
NM_000237.2:c.602A>T NP_000228.1:p.Asp201Val
NM_000237.3:c.602A>T MANE Select NP_000228.1:p.Asp201Val
Search 100 bp 5'
Search 100 bp 3'